ClinVar Miner

List of variants reported as pathogenic for auditory system disease by Invitae

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 730
Download table as spreadsheet
HGVS dbSNP
NC_000002.11:g.(?_73612987)_(73836749_?)del
NC_000002.11:g.(?_73659316)_(73659429_?)del
NC_000002.11:g.(?_73716751)_(73747153_?)del
NC_000002.11:g.(?_73746892)_(73762086_?)del
NC_000002.11:g.(?_73777384)_(73800561_?)del
NC_000002.12:g.(?_73489624)_(73603314_?)del
NC_000003.12:g.(?_128479422)_(128487076_?)del
NC_000003.12:g.(?_128480999)_(128912627_?)del
NC_000003.12:g.(?_128486793)_(128487041_?)del
NC_000004.11:g.(?_123663028)_(124235239_?)del
NC_000004.11:g.(?_123977532)_(123978453_?)del
NC_000004.11:g.(?_124011714)_(124011880_?)del
NC_000004.12:g.(?_123056367)_(123057308_?)del
NC_000004.12:g.(?_123056387)_(123057288_?)del
NC_000005.10:g.(?_141516831)_(141618934_?)del
NC_000005.10:g.(?_150387882)_(150399068_?)del
NC_000005.9:g.(?_118788261)_(118807405_?)del
NC_000005.9:g.(?_118865579)_(118867109_?)del
NC_000005.9:g.(?_149775825)_(149778631_?)del
NC_000005.9:g.(?_149776191_149778631del
NC_000008.11:g.(?_60741413)_(60856908_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)del
NC_000008.11:g.(?_71199320)_(71356506_?)del
NC_000008.11:g.(?_71244583)_(71244712_?)del
NC_000008.11:g.(?_71244583)_(71322288_?)del
NC_000008.11:g.(?_71269720)_(71269843_?)del
NC_000008.11:g.(?_71269720)_(71271917_?)del
NC_000010.10:g.(?_73079047)_(73079087_?)del
NC_000013.10:g.(?_20797176_21105944del
NC_000016.10:g.(?_13920156)_(13948357_?)del
NC_000016.10:g.(?_13928022)_(13928241_?)del
NC_000016.10:g.(?_2496129)_(2500978_?)del
NC_000016.10:g.(?_51137092)_(51151261_?)del
NC_000016.10:g.(?_78278583)_(80589366_?)del
NC_000016.10:g.(?_79594440)_(79599922_?)del
NC_000022.10:g.(?_18900668)_(19770565_?)del
NC_000022.10:g.(?_18900688)_(21351637_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)del
NC_000022.10:g.(?_19163623)_(19770565_?)del
NC_000022.10:g.(?_19743226)_(19755855_?)del
NC_000022.10:g.(?_19747167)_(19754390_?)del
NC_000022.10:g.(?_19748454_19748649del
NC_000022.10:g.(?_29083885)_(30337586_?)del
NC_000022.10:g.(?_29999982)_(30090797_?)del
NC_000022.10:g.(?_29999988)_(30077600_?)del
NC_000022.10:g.(?_29999988)_(30090791_?)del
NC_000022.10:g.(?_30051485_30051628del
NC_000022.11:g.(?_19722428)_(19975757_?)del
NC_000022.11:g.(?_19755901)_(19759687_?)del
NC_000022.11:g.(?_19755901)_(19766877_?)del
NC_000022.11:g.(?_19755901)_(19783042_?)del
NC_000022.11:g.(?_19755950)_(19759697_?)del
NC_000022.11:g.(?_29603989)_(29604122_?)del
NC_000022.11:g.(?_29603989)_(29636886_?)del
NC_000022.11:g.(?_29603989)_(29681611_?)del
NC_000022.11:g.(?_29603999)_(29604122_?)del
NC_000022.11:g.(?_29603999)_(29642295_?)del
NC_000022.11:g.(?_29636741)_(29639222_?)del
NC_000022.11:g.(?_29636741)_(29661349_?)del
NC_000022.11:g.(?_29642196)_(29642291_?)del
NC_000022.11:g.(?_29658157)_(29661364_?)del
NC_000022.11:g.(?_29668327)_(29678329_?)del
NC_000022.11:g.(?_29671816)_(29678333_?)del
NC_000022.11:g.(?_29673259)_(29673496_?)del
NC_000022.11:g.29600322_29604002del
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NC_000023.11:g.(?_13735066)_(13769113_?)del
NM_000268.3(NF2):c.-443-?_*3798+?del
NM_000268.4(NF2):c.1003G>T (p.Glu335Ter) rs1601643866
NM_000268.4(NF2):c.1021C>T (p.Arg341Ter) rs74315499
NM_000268.4(NF2):c.10del (p.Ala4fs)
NM_000268.4(NF2):c.1162del (p.Ala388fs)
NM_000268.4(NF2):c.1198C>T (p.Gln400Ter)
NM_000268.4(NF2):c.1210G>T (p.Glu404Ter)
NM_000268.4(NF2):c.122G>A (p.Trp41Ter) rs1555986860
NM_000268.4(NF2):c.1334_1337del (p.Glu445fs) rs1601649018
NM_000268.4(NF2):c.1346_1347del (p.Lys449fs) rs1556001351
NM_000268.4(NF2):c.1387G>T (p.Glu463Ter) rs74315503
NM_000268.4(NF2):c.1396C>T (p.Arg466Ter) rs74315504
NM_000268.4(NF2):c.1413_1428del (p.Leu472fs)
NM_000268.4(NF2):c.1575-2A>G
NM_000268.4(NF2):c.1606C>T (p.Gln536Ter)
NM_000268.4(NF2):c.1621G>T (p.Glu541Ter)
NM_000268.4(NF2):c.1627A>T (p.Lys543Ter) rs878853925
NM_000268.4(NF2):c.1646T>A (p.Leu549Ter) rs1601666156
NM_000268.4(NF2):c.169C>T (p.Arg57Ter) rs121434259
NM_000268.4(NF2):c.1737+2T>C
NM_000268.4(NF2):c.193C>T (p.Gln65Ter)
NM_000268.4(NF2):c.240+1G>A
NM_000268.4(NF2):c.240+1G>C
NM_000268.4(NF2):c.240+2T>C
NM_000268.4(NF2):c.241-2A>G
NM_000268.4(NF2):c.251dup (p.His84fs)
NM_000268.4(NF2):c.273del (p.Val92fs) rs1555987647
NM_000268.4(NF2):c.319_325delinsTAGGATA (p.Glu107_Leu109delinsTer)
NM_000268.4(NF2):c.320_321del (p.Glu107fs)
NM_000268.4(NF2):c.322del (p.Glu108fs)
NM_000268.4(NF2):c.375_376del (p.Gln125fs)
NM_000268.4(NF2):c.431dup (p.Tyr144Ter)
NM_000268.4(NF2):c.432C>G (p.Tyr144Ter) rs1060503667
NM_000268.4(NF2):c.447+1del
NM_000268.4(NF2):c.457dup (p.Tyr153fs)
NM_000268.4(NF2):c.481G>T (p.Gly161Ter)
NM_000268.4(NF2):c.531T>A (p.Tyr177Ter)
NM_000268.4(NF2):c.563_564del (p.Ile188fs) rs1555993313
NM_000268.4(NF2):c.586C>T (p.Arg196Ter) rs1555993336
NM_000268.4(NF2):c.58A>T (p.Lys20Ter)
NM_000268.4(NF2):c.592C>T (p.Arg198Ter) rs1555993345
NM_000268.4(NF2):c.648_649dup (p.Tyr217fs)
NM_000268.4(NF2):c.656_657insA (p.Asn220fs) rs1555994819
NM_000268.4(NF2):c.658A>T (p.Asn220Tyr) rs1601618646
NM_000268.4(NF2):c.679A>T (p.Lys227Ter)
NM_000268.4(NF2):c.69dup (p.Val24fs) rs1601515970
NM_000268.4(NF2):c.784C>T (p.Arg262Ter) rs74315496
NM_000268.4(NF2):c.798C>G (p.Tyr266Ter) rs917257652
NM_000268.4(NF2):c.970del (p.Gln324fs) rs1555998851
NM_000356.4(TCOF1):c.1047+1G>A rs886041506
NM_000356.4(TCOF1):c.1127dup (p.Ala377fs) rs1554136123
NM_000356.4(TCOF1):c.1146_1147del (p.Gly383fs) rs1562347303
NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs) rs1064794474
NM_000356.4(TCOF1):c.1759C>T (p.Gln587Ter) rs896979080
NM_000356.4(TCOF1):c.1915_1916del (p.Lys639fs) rs1554137419
NM_000356.4(TCOF1):c.2564C>G (p.Ser855Ter) rs1554138811
NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs) rs1554138819
NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter) rs119470017
NM_000356.4(TCOF1):c.2902dup (p.Glu968fs) rs1554078461
NM_000356.4(TCOF1):c.3557_3558del (p.Lys1186fs) rs1581223107
NM_000356.4(TCOF1):c.3987dup (p.Ser1330fs) rs1561540623
NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs) rs1554081108
NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs) rs1554081112
NM_000356.4(TCOF1):c.4130_4134del (p.Lys1377fs) rs587776585
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.4175_4176del (p.Asp1391_Ser1392insTer) rs1554081168
NM_000356.4(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_000356.4(TCOF1):c.640-1946C>T rs748805008
NM_000414.4(HSD17B4):c.1147C>T (p.Gln383Ter)
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.1352del (p.Lys451fs)
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp) rs137853097
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr) rs137853097
NM_000414.4(HSD17B4):c.1424C>G (p.Ser475Ter)
NM_000414.4(HSD17B4):c.1499del (p.Asn500fs)
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.4(HSD17B4):c.1537C>A (p.Pro513Thr)
NM_000414.4(HSD17B4):c.1578del (p.Phe526fs) rs1561485663
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs) rs1057517323
NM_000414.4(HSD17B4):c.1659_1660dup (p.Ser554fs)
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter) rs1038744864
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs) rs1057516936
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs) rs1554068426
NM_000414.4(HSD17B4):c.1921G>T (p.Glu641Ter)
NM_000414.4(HSD17B4):c.1951G>T (p.Glu651Ter)
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter) rs751646311
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000414.4(HSD17B4):c.58+1G>C
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098
NM_000414.4(HSD17B4):c.911C>G (p.Ser304Ter)
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000503.6(EYA1):c.1013_1016del (p.Ser338fs) rs1554615536
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter) rs1554615511
NM_000503.6(EYA1):c.1050+1G>T
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) rs121909202
NM_000503.6(EYA1):c.1140+1G>T
NM_000503.6(EYA1):c.1186G>T (p.Gly396Ter)
NM_000503.6(EYA1):c.1200-1G>A rs1563634200
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1329_1330del (p.Glu443fs) rs1554596461
NM_000503.6(EYA1):c.1354_1355del (p.Val452fs) rs1585817892
NM_000503.6(EYA1):c.1418_1421del (p.Ala473fs) rs1585812463
NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)
NM_000503.6(EYA1):c.1476-2A>T
NM_000503.6(EYA1):c.1598-2A>G
NM_000503.6(EYA1):c.1635del (p.Phe545fs)
NM_000503.6(EYA1):c.1644del (p.Val549fs)
NM_000503.6(EYA1):c.1684C>T (p.Gln562Ter) rs1481254965
NM_000503.6(EYA1):c.1698+1G>T
NM_000503.6(EYA1):c.229C>T (p.Arg77Ter) rs200164773
NM_000503.6(EYA1):c.466C>T (p.Gln156Ter)
NM_000503.6(EYA1):c.470C>A (p.Ser157Ter)
NM_000503.6(EYA1):c.532del (p.Ala178fs) rs1554548840
NM_000503.6(EYA1):c.637C>T (p.Gln213Ter)
NM_000503.6(EYA1):c.640-15_698del rs1554541834
NM_000503.6(EYA1):c.682C>T (p.Gln228Ter) rs1563422304
NM_000503.6(EYA1):c.806del (p.Ala269fs)
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter) rs1131691667
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415
NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)
NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)
NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)
NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)
NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)
NM_001110556.2(FLNA):c.2452del (p.Ala818fs) rs1603361851
NM_001110556.2(FLNA):c.2565+1G>A rs786205186
NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter) rs398123614
NM_001110556.2(FLNA):c.2947dup (p.Val983fs)
NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)
NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs) rs1603361195
NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)
NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter) rs1557177738
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473
NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu) rs1060500716
NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)
NM_001110556.2(FLNA):c.3814del (p.Arg1272fs) rs1557177636
NM_001110556.2(FLNA):c.3865G>T (p.Gly1289Ter) rs1557177623
NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs)
NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg) rs797045044
NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)
NM_001110556.2(FLNA):c.4840_4852del (p.Gly1614fs) rs1557177086
NM_001110556.2(FLNA):c.5146del (p.Gln1716fs)
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001110556.2(FLNA):c.5643del (p.Asn1881fs) rs1569551502
NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)
NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)
NM_001110556.2(FLNA):c.5879dup (p.Met1960fs) rs1603359464
NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs) rs1060500718
NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs)
NM_001110556.2(FLNA):c.6586del (p.His2196fs)
NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs)
NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter) rs1060500717
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter) rs782308324
NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)
NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs) rs1557175195
NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs) rs1603358246
NM_001110556.2(FLNA):c.812del (p.Pro271fs)
NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer)
NM_001110556.2(FLNA):c.999_1008dup (p.Asp337delinsArgGlnTer) rs1557179357
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.4490-1G>C
NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_001145661.2(GATA2):c.1017+572C>T rs1559985787
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001145661.2(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_001145661.2(GATA2):c.649_653dup (p.Glu219_Ser220insTer) rs1553770949
NM_001145661.2(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_001145661.2(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_001145661.2(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer) rs1555501140
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886
NM_001199107.2(TBC1D24):c.715del (p.Val239fs)
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956
NM_001354604.2(MITF):c.709dup (p.Tyr237fs)
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs)
NM_001371623.1(TCOF1):c.1328_1350del (p.Ala443fs)
NM_001371623.1(TCOF1):c.1389del (p.Ala464fs)
NM_001371623.1(TCOF1):c.1425_1426del (p.Arg476fs)
NM_001371623.1(TCOF1):c.1504_1505insT (p.Lys502fs)
NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs) rs1581114957
NM_001371623.1(TCOF1):c.1578del (p.Lys528fs)
NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs) rs587776583
NM_001371623.1(TCOF1):c.1659dup (p.Asp554fs)
NM_001371623.1(TCOF1):c.1866_1873del (p.Glu622fs)
NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs)
NM_001371623.1(TCOF1):c.2285_2286del (p.Asp761_Ser762insTer) rs1554137531
NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer) rs1581136492
NM_001371623.1(TCOF1):c.2384del (p.Ala795fs)
NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)
NM_001371623.1(TCOF1):c.2709del (p.Lys904fs)
NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer)
NM_001371623.1(TCOF1):c.3337_3338insCTCT (p.Gln1113fs)
NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs)
NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs) rs1581210464
NM_001371623.1(TCOF1):c.3698_3702del (p.Ser1233fs)
NM_001371623.1(TCOF1):c.3784+1G>C
NM_001371623.1(TCOF1):c.4210_4214del (p.Lys1404fs)
NM_001371623.1(TCOF1):c.4342_4343del (p.Lys1448fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter)
NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter)
NM_001378454.1(ALMS1):c.10292_10293insT (p.Ile3432fs)
NM_001378454.1(ALMS1):c.10357A>T (p.Lys3453Ter)
NM_001378454.1(ALMS1):c.10385-2A>G
NM_001378454.1(ALMS1):c.10558_10561del (p.Asp3520fs)
NM_001378454.1(ALMS1):c.10619_10622del (p.Thr3540fs)
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
NM_001378454.1(ALMS1):c.10750C>T (p.Gln3584Ter)
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs) rs387906312
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs) rs1218465638
NM_001378454.1(ALMS1):c.10797_10800del (p.Glu3600fs) rs1553418500
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
NM_001378454.1(ALMS1):c.10988G>A (p.Trp3663Ter)
NM_001378454.1(ALMS1):c.11104C>T (p.Arg3702Ter)
NM_001378454.1(ALMS1):c.11166_11167del (p.Ser3722fs)
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) rs747272625
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)
NM_001378454.1(ALMS1):c.11414_11418del (p.Arg3805fs)
NM_001378454.1(ALMS1):c.11420_11424del (p.Lys3807fs) rs1553418609
NM_001378454.1(ALMS1):c.11449_11450del (p.Arg3817fs) rs776599992
NM_001378454.1(ALMS1):c.11576_11577del (p.Ser3859fs)
NM_001378454.1(ALMS1):c.11600dup (p.Leu3868fs)
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs) rs1476205467
NM_001378454.1(ALMS1):c.11707C>T (p.Arg3903Ter)
NM_001378454.1(ALMS1):c.11785_11792delinsCCGGAAT (p.Ser3929fs)
NM_001378454.1(ALMS1):c.11849del (p.Lys3950fs)
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs)
NM_001378454.1(ALMS1):c.11904_11908del (p.Val3968_Glu3969insTer)
NM_001378454.1(ALMS1):c.12124C>T (p.Gln4042Ter)
NM_001378454.1(ALMS1):c.12373C>T (p.Gln4125Ter)
NM_001378454.1(ALMS1):c.1348G>T (p.Glu450Ter)
NM_001378454.1(ALMS1):c.1447G>T (p.Gly483Ter)
NM_001378454.1(ALMS1):c.149del (p.Ala50fs)
NM_001378454.1(ALMS1):c.1910del (p.Pro637fs)
NM_001378454.1(ALMS1):c.196G>T (p.Glu66Ter)
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
NM_001378454.1(ALMS1):c.2041C>T (p.Gln681Ter)
NM_001378454.1(ALMS1):c.2071C>T (p.Gln691Ter)
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
NM_001378454.1(ALMS1):c.211G>T (p.Glu71Ter)
NM_001378454.1(ALMS1):c.2138_2139del (p.Ser713fs) rs387906313
NM_001378454.1(ALMS1):c.2203C>T (p.Gln735Ter)
NM_001378454.1(ALMS1):c.2218del (p.Thr741fs)
NM_001378454.1(ALMS1):c.2225_2226dup (p.Val743fs)
NM_001378454.1(ALMS1):c.2370_2371del (p.Ala792fs)
NM_001378454.1(ALMS1):c.2464C>T (p.Gln822Ter)
NM_001378454.1(ALMS1):c.281dup (p.Gln95fs)
NM_001378454.1(ALMS1):c.2896C>T (p.Gln966Ter)
NM_001378454.1(ALMS1):c.2912_2915del (p.Asp971fs)
NM_001378454.1(ALMS1):c.3011C>G (p.Ser1004Ter)
NM_001378454.1(ALMS1):c.3012del (p.His1005fs)
NM_001378454.1(ALMS1):c.3051G>A (p.Trp1017Ter)
NM_001378454.1(ALMS1):c.3121_3125del (p.Glu1041fs)
NM_001378454.1(ALMS1):c.3150C>A (p.Tyr1050Ter)
NM_001378454.1(ALMS1):c.3298del (p.Arg1100fs)
NM_001378454.1(ALMS1):c.3325C>T (p.Gln1109Ter)
NM_001378454.1(ALMS1):c.350G>A (p.Trp117Ter)
NM_001378454.1(ALMS1):c.3523dup (p.Thr1175fs)
NM_001378454.1(ALMS1):c.367C>T (p.Gln123Ter)
NM_001378454.1(ALMS1):c.4144_4147del (p.Ser1382fs)
NM_001378454.1(ALMS1):c.4210G>T (p.Glu1404Ter)
NM_001378454.1(ALMS1):c.4318C>T (p.Gln1440Ter)
NM_001378454.1(ALMS1):c.4715C>G (p.Ser1572Ter)
NM_001378454.1(ALMS1):c.4721del (p.Gly1574fs)
NM_001378454.1(ALMS1):c.4820del (p.Lys1607fs)
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
NM_001378454.1(ALMS1):c.4914_4917del (p.Asn1638fs) rs779366889
NM_001378454.1(ALMS1):c.5169dup (p.Gln1724fs)
NM_001378454.1(ALMS1):c.547G>T (p.Glu183Ter)
NM_001378454.1(ALMS1):c.5750_5753del (p.Ala1917fs)
NM_001378454.1(ALMS1):c.589C>T (p.Gln197Ter)
NM_001378454.1(ALMS1):c.6094G>T (p.Gly2032Ter)
NM_001378454.1(ALMS1):c.6121del (p.Gln2041fs)
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs) rs759603306
NM_001378454.1(ALMS1):c.6204_6208del (p.Ser2068fs)
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
NM_001378454.1(ALMS1):c.638dup (p.Leu214fs)
NM_001378454.1(ALMS1):c.6528dup (p.Gln2177fs)
NM_001378454.1(ALMS1):c.6668_6669insTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGCCAAATAATGTGCTTTT (p.Leu2223delinsPhePhePhePhePhePheXaaXaaXaaXaaArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgAlaLysTer)
NM_001378454.1(ALMS1):c.6831C>A (p.Cys2277Ter)
NM_001378454.1(ALMS1):c.6957_6960del (p.Arg2319fs) rs1553404377
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs) rs1246023978
NM_001378454.1(ALMS1):c.7334dup (p.Asn2445fs)
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
NM_001378454.1(ALMS1):c.7405G>T (p.Glu2469Ter)
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
NM_001378454.1(ALMS1):c.7531C>T (p.Arg2511Ter)
NM_001378454.1(ALMS1):c.7589C>G (p.Ser2530Ter)
NM_001378454.1(ALMS1):c.8109del (p.Ser2704fs)
NM_001378454.1(ALMS1):c.8563G>T (p.Gly2855Ter)
NM_001378454.1(ALMS1):c.857C>G (p.Ser286Ter)
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
NM_001378454.1(ALMS1):c.870del (p.Ser290fs)
NM_001378454.1(ALMS1):c.8756_8759del (p.Pro2919fs) rs1553409774
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs) rs1553409851
NM_001378454.1(ALMS1):c.9190_9191insA (p.Leu3064fs)
NM_001378454.1(ALMS1):c.9442C>T (p.Gln3148Ter)
NM_001378454.1(ALMS1):c.9701del (p.Asn3234fs)
NM_001378454.1(ALMS1):c.9834T>A (p.Tyr3278Ter)
NM_001378454.1(ALMS1):c.9974C>G (p.Ser3325Ter)
NM_001379200.1(TBX1):c.1096del (p.Asp366fs)
NM_001379200.1(TBX1):c.1117del (p.Leu373fs)
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs)
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs)
NM_001384732.1(CPLANE1):c.3407_3408del (p.Ser1136fs) rs1228082731
NM_002109.6(HARS1):c.464T>G (p.Val155Gly) rs1239341211
NM_002241.5(KCNJ10):c.321_322del (p.Val109fs)
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405
NM_002968.2(SALL1):c.1214dup (p.Leu406fs) rs1555475275
NM_002968.2(SALL1):c.2256del (p.Tyr753fs) rs1555475120
NM_002968.2(SALL1):c.2356del (p.Arg786fs) rs1555475106
NM_002968.2(SALL1):c.3005_3008del (p.Ala1002fs) rs1597228188
NM_002968.2(SALL1):c.712C>T (p.Gln238Ter) rs1567316325
NM_002968.2(SALL1):c.826C>T (p.Arg276Ter) rs104894537
NM_002968.2(SALL1):c.866T>A (p.Leu289Ter) rs1555475334
NM_002968.2(SALL1):c.958C>T (p.Gln320Ter) rs1555475319
NM_002968.2(SALL1):c.967C>T (p.Gln323Ter) rs104894538
NM_002968.3(SALL1):c.1027dup (p.Ile343fs)
NM_002968.3(SALL1):c.1028dup (p.Leu344fs)
NM_002968.3(SALL1):c.1324del (p.Ser442fs) rs1597230288
NM_002968.3(SALL1):c.1423_1424del (p.Arg475fs)
NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) rs1064793257
NM_002968.3(SALL1):c.420del (p.Ser141fs)
NM_002968.3(SALL1):c.750dup (p.Arg251fs)
NM_002968.3(SALL1):c.870_871dup (p.Gln291fs) rs886041236
NM_002968.3(SALL1):c.870dup (p.Gln291fs)
NM_002968.3(SALL1):c.871C>T (p.Gln291Ter)
NM_002968.3(SALL1):c.881_893dup (p.Leu299fs)
NM_003611.3(OFD1):c.111+2T>G
NM_003611.3(OFD1):c.121C>T (p.Arg41Ter) rs312262810
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.1980dup (p.Ala661fs)
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2745_2746del (p.Tyr916fs)
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.565C>T (p.Gln189Ter)
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.794dup (p.Ser266fs)
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_005219.5(DIAPH1):c.108dup (p.Lys37Ter)
NM_005219.5(DIAPH1):c.1549C>T (p.Gln517Ter)
NM_005219.5(DIAPH1):c.2540_2541del (p.Lys847fs)
NM_005219.5(DIAPH1):c.3022C>T (p.Arg1008Ter)
NM_005236.2(ERCC4):c.1731del (p.Arg576_Tyr577insTer) rs1555468482
NM_005236.3(ERCC4):c.1882_1885del (p.Glu628fs)
NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005236.3(ERCC4):c.793-2A>G
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) rs1555530022
NM_005360.5(MAF):c.881G>A (p.Arg294Gln) rs1597847611
NM_005391.4(PDK3):c.473G>A (p.Arg158His) rs397515323
NM_015120.4(ALMS1):c.10134dup (p.Gln3379fs) rs1553416867
NM_015120.4(ALMS1):c.10303delinsGA (p.Gln3435fs) rs1060500034
NM_015120.4(ALMS1):c.10483C>T (p.Gln3495Ter) rs772624348
NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) rs1275113273
NM_015120.4(ALMS1):c.10679del (p.Val3560fs) rs1573030204
NM_015120.4(ALMS1):c.10825C>T (p.Arg3609Ter) rs1192396248
NM_015120.4(ALMS1):c.10885C>T (p.Arg3629Ter) rs1473611414
NM_015120.4(ALMS1):c.10992G>A (p.Trp3664Ter) rs193919339
NM_015120.4(ALMS1):c.11116_11134del (p.Arg3706fs) rs398122992
NM_015120.4(ALMS1):c.11207C>A (p.Ser3736Ter) rs367877017
NM_015120.4(ALMS1):c.11385del (p.Phe3795fs) rs768759374
NM_015120.4(ALMS1):c.11449C>T (p.Gln3817Ter) rs940576720
NM_015120.4(ALMS1):c.11647_11648del (p.Met3883fs) rs1573052379
NM_015120.4(ALMS1):c.11717_11720del (p.Val3906fs) rs932538480
NM_015120.4(ALMS1):c.11726del (p.Thr3909fs) rs1573053412
NM_015120.4(ALMS1):c.11812dup (p.Met3938fs) rs757722767
NM_015120.4(ALMS1):c.11994G>A (p.Trp3998Ter) rs1553421725
NM_015120.4(ALMS1):c.1199_1205del (p.Thr400fs) rs761292021
NM_015120.4(ALMS1):c.164T>A (p.Leu55Ter) rs755760721
NM_015120.4(ALMS1):c.1735del (p.Arg579fs) rs777476179
NM_015120.4(ALMS1):c.1819G>T (p.Gly607Ter) rs1553403321
NM_015120.4(ALMS1):c.20del (p.Pro7fs) rs1340135231
NM_015120.4(ALMS1):c.2179dup (p.Tyr727fs) rs771459937
NM_015120.4(ALMS1):c.2273del (p.Pro758fs) rs1572932377
NM_015120.4(ALMS1):c.2822T>A (p.Leu941Ter) rs539612316
NM_015120.4(ALMS1):c.3019dup (p.Arg1007fs) rs878854998
NM_015120.4(ALMS1):c.301G>T (p.Glu101Ter) rs1254495717
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015120.4(ALMS1):c.362_363del (p.Ile121fs) rs1553398842
NM_015120.4(ALMS1):c.363_366dup (p.Tyr123fs) rs753301358
NM_015120.4(ALMS1):c.3690_3691del (p.Gly1231fs) rs1296683633
NM_015120.4(ALMS1):c.3870T>G (p.Tyr1290Ter) rs369314182
NM_015120.4(ALMS1):c.4156dup (p.Thr1386fs) rs797045228
NM_015120.4(ALMS1):c.4183C>T (p.Gln1395Ter) rs969786171
NM_015120.4(ALMS1):c.430C>T (p.Gln144Ter) rs150825781
NM_015120.4(ALMS1):c.4393C>T (p.Gln1465Ter) rs904289501
NM_015120.4(ALMS1):c.5145T>G (p.Tyr1715Ter) rs772136379
NM_015120.4(ALMS1):c.5179dup (p.Leu1727fs) rs1553404020
NM_015120.4(ALMS1):c.5200C>T (p.Gln1734Ter) rs750136202
NM_015120.4(ALMS1):c.5465del (p.Pro1822fs) rs770264966
NM_015120.4(ALMS1):c.5590C>T (p.Gln1864Ter) rs769440001
NM_015120.4(ALMS1):c.563dup (p.Ser190fs) rs1439541639
NM_015120.4(ALMS1):c.5735del (p.Pro1912fs) rs763048583
NM_015120.4(ALMS1):c.5906C>G (p.Ser1969Ter) rs1490127694
NM_015120.4(ALMS1):c.60_61insTAGGAG (p.Glu21Ter) rs1574423697
NM_015120.4(ALMS1):c.6375del (p.Pro2126fs) rs1553404220
NM_015120.4(ALMS1):c.6436C>T (p.Arg2146Ter) rs770558150
NM_015120.4(ALMS1):c.6571_6574del (p.Ser2191fs) rs1034630858
NM_015120.4(ALMS1):c.6590del (p.Lys2197fs) rs1553404283
NM_015120.4(ALMS1):c.6775del (p.Thr2259fs) rs1553404310
NM_015120.4(ALMS1):c.6800T>A (p.Leu2267Ter) rs761071372
NM_015120.4(ALMS1):c.6840del (p.Pro2281fs) rs1553404337
NM_015120.4(ALMS1):c.6850dup (p.Leu2284fs) rs1558651349
NM_015120.4(ALMS1):c.6901del (p.Val2301fs) rs1553404358
NM_015120.4(ALMS1):c.712G>T (p.Glu238Ter) rs989080548
NM_015120.4(ALMS1):c.7247C>A (p.Ser2416Ter) rs1060500039
NM_015120.4(ALMS1):c.7376_7379del (p.Asp2459fs) rs1370417967
NM_015120.4(ALMS1):c.8008C>T (p.Arg2670Ter) rs549857076
NM_015120.4(ALMS1):c.806_808del (p.Ser269_Arg270delinsTer) rs758952057
NM_015120.4(ALMS1):c.808C>T (p.Arg270Ter) rs1426009756
NM_015120.4(ALMS1):c.8136del (p.Phe2712fs) rs1553409683
NM_015120.4(ALMS1):c.8144_8151del (p.Ser2715fs) rs1553409686
NM_015120.4(ALMS1):c.8155dup (p.Ser2719fs) rs1553409691
NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) rs193919340
NM_015120.4(ALMS1):c.8352_8355del (p.Lys2784_Glu2785insTer) rs1553409710
NM_015120.4(ALMS1):c.8766C>A (p.Cys2922Ter) rs765908556
NM_015120.4(ALMS1):c.9422_9423del (p.Gln3141fs) rs1558667882
NM_015120.4(ALMS1):c.9433dup (p.Thr3145fs) rs878855003
NM_015120.4(ALMS1):c.9541C>T (p.Arg3181Ter) rs563393715
NM_015120.4(ALMS1):c.9832_9835dup (p.Tyr3279fs) rs1573000963
NM_015120.4(ALMS1):c.9900dup (p.Ser3301fs) rs754702823
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs) rs1589613893
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122
NM_016356.5(DCDC2):c.529dup (p.Ile177fs) rs904944428
NM_016356.5(DCDC2):c.970dup (p.Ala324fs) rs774115675
NM_016418.5(NF2):c.1737+1G>T rs1556003799
NM_016418.5(NF2):c.516+1G>A rs1601612044
NM_016418.5(NF2):c.517-1G>A rs1064796632
NM_016418.5(NF2):c.517-2A>G rs1060503670
NM_016418.5(NF2):c.517-92_568del rs1601613230
NM_016418.5(NF2):c.676-2A>G rs1060503666
NM_016418.5(NF2):c.999+1G>A rs1569302393
NM_017780.4(CHD7):c.1058del (p.Phe353fs) rs1060503184
NM_017780.4(CHD7):c.1170T>G (p.Tyr390Ter) rs554737227
NM_017780.4(CHD7):c.1267del (p.Glu423fs)
NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter) rs1586251038
NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter) rs1554581657
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1488dup (p.Pro497fs) rs786204200
NM_017780.4(CHD7):c.1505del (p.Pro502fs) rs863224517
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs) rs1554588671
NM_017780.4(CHD7):c.1871del (p.Val624fs)
NM_017780.4(CHD7):c.1925del (p.Lys642fs) rs1554588712
NM_017780.4(CHD7):c.1936dup (p.Arg646fs)
NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs) rs1563595101
NM_017780.4(CHD7):c.1953dup (p.Asp652fs)
NM_017780.4(CHD7):c.1977del (p.Lys660fs)
NM_017780.4(CHD7):c.1984_1985insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAACCCAAGGAGA (p.Lys662fs)
NM_017780.4(CHD7):c.2090del (p.Lys697fs) rs1563595385
NM_017780.4(CHD7):c.2097-1G>C rs1060503182
NM_017780.4(CHD7):c.2195del (p.Pro732fs)
NM_017780.4(CHD7):c.2195dup (p.Pro733fs) rs1586341138
NM_017780.4(CHD7):c.2196dup (p.Pro733fs)
NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs) rs1563607193
NM_017780.4(CHD7):c.2238+1G>A
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.2295del (p.Phe765fs) rs1586350854
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs) rs1563618176
NM_017780.4(CHD7):c.2568del (p.Lys857fs) rs1060503181
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer) rs1586389286
NM_017780.4(CHD7):c.2707_2710del (p.His903fs)
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs) rs1586389310
NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter)
NM_017780.4(CHD7):c.2767dup (p.Asp923fs)
NM_017780.4(CHD7):c.281del (p.Pro94fs)
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.2836-1G>A rs1586389929
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) rs1586390136
NM_017780.4(CHD7):c.2957+2T>C
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.29_30del (p.Phe10fs) rs1586247124
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys) rs1060503187
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3378+5G>C
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter) rs1563636399
NM_017780.4(CHD7):c.3470del (p.Pro1157fs)
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter) rs1554599065
NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs)
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs) rs1586405367
NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro)
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017780.4(CHD7):c.3678del (p.Phe1226fs) rs863224518
NM_017780.4(CHD7):c.3695_3710dup (p.Asn1237delinsLysArgTrpSerSerTer)
NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter) rs878855032
NM_017780.4(CHD7):c.3937del (p.Ser1313fs) rs1554600538
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer) rs1586417729
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs) rs1586419497
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4353+1G>T
NM_017780.4(CHD7):c.4360C>T (p.Gln1454Ter)
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) rs398124319
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.4424del (p.Glu1475fs)
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs) rs1563645417
NM_017780.4(CHD7):c.4652del (p.Leu1551fs) rs1586426486
NM_017780.4(CHD7):c.4662del (p.Asp1554fs) rs1563648905
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter)
NM_017780.4(CHD7):c.478del (p.Tyr160fs) rs1554581198
NM_017780.4(CHD7):c.4888del (p.Tyr1630fs)
NM_017780.4(CHD7):c.4906G>T (p.Glu1636Ter)
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer) rs864622455
NM_017780.4(CHD7):c.4944_4945del (p.Tyr1649fs)
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter) rs777652245
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017780.4(CHD7):c.5101del (p.Gln1701fs) rs1554602557
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter)
NM_017780.4(CHD7):c.5211-1G>C rs1060503180
NM_017780.4(CHD7):c.5211-2A>G
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.5330del (p.Phe1777fs)
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter)
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.5932del (p.Val1978fs)
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs) rs1131691420
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6163_6164del (p.Leu2055fs) rs1060503185
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs) rs886039528
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter) rs766862122
NM_017780.4(CHD7):c.6401del (p.Asn2134fs) rs1586446101
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) rs376056567
NM_017780.4(CHD7):c.6473del (p.Ser2158fs) rs1563660938
NM_017780.4(CHD7):c.6641_6642del (p.Val2214fs)
NM_017780.4(CHD7):c.667G>T (p.Gly223Ter)
NM_017780.4(CHD7):c.6730_6733dup (p.Leu2245fs)
NM_017780.4(CHD7):c.6775+1G>T
NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs)
NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs) rs1554604441
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs) rs1563662791
NM_017780.4(CHD7):c.689C>A (p.Ser230Ter)
NM_017780.4(CHD7):c.6937-2A>G rs1586451506
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter) rs878975068
NM_017780.4(CHD7):c.7160C>G (p.Ser2387Ter)
NM_017780.4(CHD7):c.718del (p.Gln240fs) rs1563560493
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter) rs1320897198
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7286_7287del (p.Glu2429fs)
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter) rs1060503188
NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs) rs1586453329
NM_017780.4(CHD7):c.7663del (p.Arg2555fs) rs863224843
NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter)
NM_017780.4(CHD7):c.7684C>T (p.Gln2562Ter)
NM_017780.4(CHD7):c.7710del (p.Val2571fs)
NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter) rs748126701
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter) rs1586460329
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs)
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
NM_017780.4(CHD7):c.8067del (p.Lys2690fs) rs1554606375
NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs)
NM_017780.4(CHD7):c.8077-1G>C rs1586466948
NM_017780.4(CHD7):c.8077-2A>G
NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs) rs1563674316
NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs) rs1586468521
NM_017780.4(CHD7):c.889C>T (p.Gln297Ter) rs1586249808
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp) rs387907067
NM_018344.6(SLC29A3):c.1088G>A (p.Arg363Gln) rs387907066
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) rs121912584
NM_018344.6(SLC29A3):c.139G>T (p.Glu47Ter)
NM_018344.6(SLC29A3):c.269_275del (p.Thr90fs)
NM_018344.6(SLC29A3):c.479G>A (p.Trp160Ter) rs776960135
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter)
NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.2556dup (p.Ala853fs) rs1561655920
NM_023073.3(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) rs1554064102
NM_023073.3(CPLANE1):c.8263del (p.Thr2755fs) rs775263897
NM_023073.3(CPLANE1):c.8471-1G>C rs1561376123
NM_023073.3(CPLANE1):c.8785A>T (p.Arg2929Ter) rs1345413118
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.907_908del (p.Lys303fs) rs1187142382
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter)
NM_032638.5(GATA2):c.437dup (p.Gly147fs)
NM_032638.5(GATA2):c.476_479dup (p.Pro161fs)
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer)
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862
NM_080647.1(TBX1):c.292A>T (p.Lys98Ter) rs1555895466
NM_145207.3(SPATA5):c.1030C>T (p.Gln344Ter)
NM_145207.3(SPATA5):c.1039_1040dup (p.Gln347fs) rs1578528119
NM_145207.3(SPATA5):c.1073del (p.Gly357_Leu358insTer) rs751291521
NM_145207.3(SPATA5):c.1333C>T (p.Arg445Ter)
NM_145207.3(SPATA5):c.1528C>T (p.Arg510Ter) rs267600009
NM_145207.3(SPATA5):c.1540C>T (p.Arg514Ter)
NM_145207.3(SPATA5):c.1574_1578del (p.Asn525fs) rs796051891
NM_145207.3(SPATA5):c.1579C>T (p.Gln527Ter)
NM_145207.3(SPATA5):c.1612C>T (p.Arg538Ter)
NM_145207.3(SPATA5):c.1677C>A (p.Tyr559Ter) rs139834687
NM_145207.3(SPATA5):c.1714+1G>A rs149688478
NM_145207.3(SPATA5):c.1747C>T (p.Gln583Ter)
NM_145207.3(SPATA5):c.1810C>T (p.Gln604Ter)
NM_145207.3(SPATA5):c.1820del (p.Asn607fs) rs1578612173
NM_145207.3(SPATA5):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(SPATA5):c.1963C>T (p.Arg655Ter)
NM_145207.3(SPATA5):c.1964del (p.Arg655fs)
NM_145207.3(SPATA5):c.2140C>T (p.Arg714Ter)
NM_145207.3(SPATA5):c.2145_2151del (p.Ala716fs)
NM_145207.3(SPATA5):c.2225del (p.Ala742fs) rs1553983667
NM_145207.3(SPATA5):c.2409_2410del (p.Glu804fs) rs1560667008
NM_145207.3(SPATA5):c.250C>T (p.Arg84Ter)
NM_145207.3(SPATA5):c.251G>A (p.Arg84Gln) rs745858366
NM_145207.3(SPATA5):c.421del (p.Ala141fs)
NM_145207.3(SPATA5):c.556C>T (p.Arg186Ter) rs796052095
NM_145207.3(SPATA5):c.580C>T (p.Arg194Ter)
NM_145207.3(SPATA5):c.661C>T (p.Gln221Ter) rs1553955672
NM_145207.3(SPATA5):c.785del (p.Asn262fs)
NM_145207.3(SPATA5):c.85G>T (p.Glu29Ter)
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243
Single allele

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