ClinVar Miner

List of variants reported as pathogenic for acromelic dysplasia

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 365
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HGVS dbSNP gnomAD frequency
NM_030957.4(ADAMTS10):c.73G>A (p.Ala25Thr) rs121434358 0.00021
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 0.00004
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192 0.00004
NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn) rs761886575 0.00003
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_019023.5(PRMT7):c.95G>C (p.Arg32Thr) rs149170494 0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123 0.00002
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter) rs1206753537 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123 0.00002
NM_139057.4(ADAMTS17):c.1721+1G>A rs749116256 0.00002
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln) rs387907064 0.00001
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) rs1555491448 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter) rs1424099914 0.00001
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) rs1417500285 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter) rs762817061 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 0.00001
NM_014714.4(IFT140):c.634+5G>A rs1323647622 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NM_019023.5(PRMT7):c.1159A>G (p.Arg387Gly) rs762515973 0.00001
NM_019023.5(PRMT7):c.1480T>C (p.Trp494Arg) rs751670999 0.00001
NM_030957.4(ADAMTS10):c.810+1G>A rs387906266 0.00001
GNAS, GLN170ALA
GNAS, IVS3AS, A-G, -12
GRCh37/hg19 16p13.3(chr16:1557663-1561126)
GRCh37/hg19 16p13.3(chr16:1568217-1570809)
GRCh37/hg19 8q21.12-21.13(chr8:79982581-80674788)
GRCh37/hg19 8q22.1(chr8:97154645-98155535)x3
GRCh37/hg19 8q23.3-24.11(chr8:115662767-117718250)
GRCh38/hg38 16p13.3(chr16:1515602-1521308)x3
NC_000008.10:g.(?_116426231)_(116635884_?)del
NC_000008.10:g.(?_116599208)_(116635864_?)del
NC_000008.10:g.(?_116599208)_(116635864_?)dup
NC_000008.10:g.(?_116616080)_(116635884_?)dup
NC_000008.10:g.(?_116635808)_(116635864_?)del
NC_000008.11:g.(?_115586981)_(115587624_?)del
NC_000016.10:g.1602592del rs2035852852
NC_000016.9:g.(?_1568197)_(1570829_?)dup
NC_000016.9:g.(?_1574533)_(1576817_?)del
NC_000016.9:g.(?_1607916)_(1608155_?)del
NC_000016.9:g.(?_1618198)_(1618355_?)del
NC_000016.9:g.(?_1621388)_(1621555_?)del
NC_000016.9:g.(?_1633295)_(1637325_?)del
NC_000016.9:g.(?_256302)_(1657267_?)del
NC_000016.9:g.68345747_68361056del
NG_012383.3:g.(70130_86397)_(87002_255549)del
NG_012383.3:g.(70130_86397)_(87002_255549)dup
NG_012383.3:g.(87002_255549)_(259980_?)del
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg) rs193922207
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp) rs2043337073
NM_000138.5(FBN1):c.4781G>A (p.Gly1594Asp) rs267606798
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.5074_5097del (p.Arg1692_Tyr1699del) rs1555396783
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys) rs387906622
NM_000138.5(FBN1):c.5099A>G (p.Tyr1700Cys) rs387906626
NM_000138.5(FBN1):c.5177G>A (p.Gly1726Asp) rs1064797059
NM_000138.5(FBN1):c.5182G>A (p.Ala1728Thr) rs387906624
NM_000138.5(FBN1):c.5202_5204dup (p.Gln1735dup) rs587776863
NM_000138.5(FBN1):c.5243G>T (p.Cys1748Phe) rs1566902569
NM_000138.5(FBN1):c.5250T>G (p.Ser1750Arg) rs1131692052
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7249del (p.Glu2417fs) rs2141226991
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs) rs2141211556
NM_000428.3(LTBP2):c.3529G>A (p.Val1177Met) rs137854856
NM_000516.5:c.(?_-424)_(257_?)dup
NM_000516.7(GNAS):c.1025G>A (p.Arg342Gln) rs2146300461
NM_000516.7(GNAS):c.1040G>C (p.Arg347Thr) rs2146304864
NM_000516.7(GNAS):c.1057G>A (p.Gly353Arg) rs2146305127
NM_000516.7(GNAS):c.1067G>A (p.Arg356His) rs2146305299
NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr) rs2146305803
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs) rs2091380655
NM_000516.7(GNAS):c.1115T>C (p.Ile372Thr) rs2146305978
NM_000516.7(GNAS):c.1125_1126del (p.Phe376fs)
NM_000516.7(GNAS):c.112del (p.Arg38fs) rs2145916486
NM_000516.7(GNAS):c.1150C>G (p.Gln384Glu) rs2146306658
NM_000516.7(GNAS):c.1163T>G (p.Leu388Arg) rs397514457
NM_000516.7(GNAS):c.1173C>R (p.Tyr391Ter) rs1254063262
NM_000516.7(GNAS):c.1174G>A (p.Glu392Lys) rs397514456
NM_000516.7(GNAS):c.1174G>T (p.Glu392Ter) rs397514456
NM_000516.7(GNAS):c.119_139+17del rs2145916749
NM_000516.7(GNAS):c.124C>A (p.Arg42Ser) rs2145916888
NM_000516.7(GNAS):c.127C>G (p.Leu43Val) rs2145916985
NM_000516.7(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000516.7(GNAS):c.254dup (p.Asp85fs) rs2146079806
NM_000516.7(GNAS):c.271A>T (p.Lys91Ter) rs1601115202
NM_000516.7(GNAS):c.277C>T (p.Gln93Ter) rs1601115231
NM_000516.7(GNAS):c.296T>C (p.Leu99Pro) rs137854531
NM_000516.7(GNAS):c.302_303del (p.Glu101fs) rs2146178462
NM_000516.7(GNAS):c.344C>T (p.Pro115Leu) rs137854539
NM_000516.7(GNAS):c.348del (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.348dup (p.Val117fs) rs2090848106
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.3G>T (p.Met1Ile) rs2145914268
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.433G>T (p.Glu145Ter)
NM_000516.7(GNAS):c.460_461del (p.Trp154fs)
NM_000516.7(GNAS):c.489C>G (p.Tyr163Ter) rs372290095
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys) rs137854532
NM_000516.7(GNAS):c.507C>A (p.Tyr169Ter) rs774895847
NM_000516.7(GNAS):c.530+1G>T rs113029858
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.595C>T (p.Arg199Cys) rs2146270332
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro) rs1267396058
NM_000516.7(GNAS):c.602dup (p.Val202fs) rs2146270735
NM_000516.7(GNAS):c.617_618del (p.Gly206fs) rs2146271310
NM_000516.7(GNAS):c.682C>T (p.Arg228Cys) rs2146278555
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000516.7(GNAS):c.692G>A (p.Arg231His) rs137854538
NM_000516.7(GNAS):c.702G>C (p.Trp234Cys) rs2091303526
NM_000516.7(GNAS):c.719-29_719-13delinsACCAAAGAGAGCAAAGCCAAG rs2146283488
NM_000516.7(GNAS):c.725del (p.Thr242fs) rs1601163749
NM_000516.7(GNAS):c.750C>G (p.Ser250Arg) rs137854534
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp) rs137854535
NM_000516.7(GNAS):c.772_773delinsGC (p.Arg258Ala) rs137854536
NM_000516.7(GNAS):c.773G>T (p.Arg258Leu) rs1555891584
NM_000516.7(GNAS):c.794G>A (p.Arg265His) rs2146285582
NM_000516.7(GNAS):c.839+1G>C rs1601164378
NM_000516.7(GNAS):c.85C>T (p.Gln29Ter) rs1057518907
NM_000516.7(GNAS):c.860_861del (p.Val287fs)
NM_000516.7(GNAS):c.917C>T (p.Ser306Leu) rs2146292463
NM_000516.7(GNAS):c.91C>T (p.Gln31Ter) rs2089384365
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001104631.2(PDE4D):c.998T>C (p.Ile333Thr)
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=) rs387907371
NM_001130144.3(LTBP3):c.1846+5G>A rs1188540819
NM_001130144.3(LTBP3):c.2017G>T (p.Gly673Cys) rs2135141843
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys) rs1554974135
NM_001130144.3(LTBP3):c.3912A>T (p.Ter1304Cys) rs1554971742
NM_002181.4(IHH):c.137C>T (p.Pro46Leu) rs121917856
NM_002181.4(IHH):c.478C>T (p.Arg160Cys) rs1948842030
NM_002181.4(IHH):c.569T>C (p.Val190Ala) rs121917857
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1308+2T>C rs1555686624
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) rs281875320
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
NM_014112.5(TRPS1):c.1014_1017dup (p.Gln340fs) rs1563638577
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter) rs121908430
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) rs1554596393
NM_014112.5(TRPS1):c.1176_1179del (p.Asn393fs) rs1817997640
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter) rs1554596328
NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter) rs1368938675
NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)
NM_014112.5(TRPS1):c.1373C>A (p.Ser458Ter)
NM_014112.5(TRPS1):c.1382C>G (p.Ser461Ter) rs2130493114
NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter) rs2130493086
NM_014112.5(TRPS1):c.1402del (p.Tyr468fs) rs2130493020
NM_014112.5(TRPS1):c.1408_1409del (p.Lys470fs)
NM_014112.5(TRPS1):c.1427dup (p.Ser477fs) rs1817988877
NM_014112.5(TRPS1):c.1488del (p.Asn497fs)
NM_014112.5(TRPS1):c.1505del (p.Ser502fs) rs2130492512
NM_014112.5(TRPS1):c.1512_1522del (p.Glu504fs)
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.1646_1649dup (p.Pro551fs) rs2130491759
NM_014112.5(TRPS1):c.1649_1650del (p.Gly550fs) rs1554596063
NM_014112.5(TRPS1):c.1690C>T (p.Gln564Ter) rs755557039
NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter) rs864621974
NM_014112.5(TRPS1):c.1695_1705del (p.Gln565fs) rs1563637033
NM_014112.5(TRPS1):c.1777G>T (p.Glu593Ter) rs2130491235
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter)
NM_014112.5(TRPS1):c.1911del (p.Asp638fs) rs2130490634
NM_014112.5(TRPS1):c.1942del (p.Ser648fs)
NM_014112.5(TRPS1):c.2049del (p.Lys683fs)
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter) rs368166434
NM_014112.5(TRPS1):c.2090dup (p.His697fs) rs2130489877
NM_014112.5(TRPS1):c.2110del (p.Cys704fs) rs1586431903
NM_014112.5(TRPS1):c.2152C>T (p.Gln718Ter) rs2130445981
NM_014112.5(TRPS1):c.2188C>T (p.Gln730Ter) rs2130445833
NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter) rs2130445786
NM_014112.5(TRPS1):c.2195_2204del (p.Gln732fs) rs1554593085
NM_014112.5(TRPS1):c.2300_2301del (p.Asp766_Ser767insTer) rs2130445285
NM_014112.5(TRPS1):c.2343_2344del (p.Lys782fs) rs1586431452
NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)
NM_014112.5(TRPS1):c.2389_2390dup (p.Ser797fs)
NM_014112.5(TRPS1):c.2445dup (p.Ser816fs) rs2130444636
NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter) rs2130444603
NM_014112.5(TRPS1):c.2480dup (p.Thr828fs) rs2130444402
NM_014112.5(TRPS1):c.2500C>T (p.Gln834Ter)
NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter)
NM_014112.5(TRPS1):c.2518_2519del (p.Leu840fs) rs2130444163
NM_014112.5(TRPS1):c.2532del (p.Asn845fs)
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) rs121908432
NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter) rs1563623987
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter) rs1156330285
NM_014112.5(TRPS1):c.2657C>A (p.Ser886Ter) rs142472404
NM_014112.5(TRPS1):c.2666del (p.Asn889fs) rs1586430715
NM_014112.5(TRPS1):c.2700+1G>A rs1586430684
NM_014112.5(TRPS1):c.2725dup (p.Cys909fs) rs1554617582
NM_014112.5(TRPS1):c.2738dup (p.Thr914fs)
NM_014112.5(TRPS1):c.2740A>C (p.Thr914Pro) rs121908433
NM_014112.5(TRPS1):c.2757_2758del (p.Trp920fs) rs2129768973
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) rs751565386
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) rs121908435
NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly) rs2129768696
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) rs1057518972
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val) rs121908436
NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)
NM_014112.5(TRPS1):c.2829del (p.Arg944fs) rs2129752164
NM_014112.5(TRPS1):c.2866C>T (p.Gln956Ter)
NM_014112.5(TRPS1):c.2880del (p.Arg961fs) rs1586250578
NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs) rs1563714392
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) rs28939070
NM_014112.5(TRPS1):c.2927_2931del (p.Leu976fs) rs2129751330
NM_014112.5(TRPS1):c.2941_2942del (p.Arg981fs)
NM_014112.5(TRPS1):c.2956_2960dup (p.Val988fs) rs1812880824
NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs) rs1554617011
NM_014112.5(TRPS1):c.3010dup (p.Ser1004fs)
NM_014112.5(TRPS1):c.3160del (p.Ser1054fs)
NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter)
NM_014112.5(TRPS1):c.3248del (p.Lys1083fs) rs2129749121
NM_014112.5(TRPS1):c.3268_3275del (p.His1090fs) rs2129748972
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter) rs121908434
NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs) rs2129748003
NM_014112.5(TRPS1):c.3461dup (p.Tyr1154Ter) rs1812863711
NM_014112.5(TRPS1):c.3556_3559dup (p.Gly1187fs)
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) rs1586249260
NM_014112.5(TRPS1):c.390del (p.Ala131fs)
NM_014112.5(TRPS1):c.489_492del (p.Glu165fs) rs1586464368
NM_014112.5(TRPS1):c.54dup (p.Asn19fs)
NM_014112.5(TRPS1):c.596del (p.Asn199fs) rs2130531960
NM_014112.5(TRPS1):c.612_615dup (p.Gly206fs) rs2130531887
NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014112.5(TRPS1):c.801del (p.Arg268fs)
NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)
NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter) rs1297221126
NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter) rs2130530613
NM_014694.4(ADAMTSL2):c.234-2A>G rs775621284
NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg) rs113994124
NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter) rs113994125
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) rs113994122
NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu) rs113994121
NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter) rs953298656
NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys) rs387907065
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs)
NM_014714.4(IFT140):c.1114del (p.Gln372fs)
NM_014714.4(IFT140):c.1346del (p.Val449fs)
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.1525-2A>T rs2141634877
NM_014714.4(IFT140):c.157_160del (p.Val53fs)
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
NM_014714.4(IFT140):c.169del (p.His57fs)
NM_014714.4(IFT140):c.1795dup (p.Ile599fs) rs2141570994
NM_014714.4(IFT140):c.1992_2005dup (p.Thr669fs) rs2141541431
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) rs2141540660
NM_014714.4(IFT140):c.217_218del (p.Arg73fs) rs2035847573
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) rs1555486629
NM_014714.4(IFT140):c.2292del (p.Leu765fs)
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2411G>A (p.Trp804Ter)
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter) rs2141185231
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) rs777399400
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) rs1567330535
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter) rs372746686
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
NM_014714.4(IFT140):c.2934C>A (p.Tyr978Ter) rs777862012
NM_014714.4(IFT140):c.2944_2948delinsGGGG (p.Arg982fs) rs2040631802
NM_014714.4(IFT140):c.2987del (p.Asn996fs)
NM_014714.4(IFT140):c.2T>C (p.Met1Thr)
NM_014714.4(IFT140):c.3060C>G (p.Tyr1020Ter)
NM_014714.4(IFT140):c.3109C>T (p.Gln1037Ter) rs774547622
NM_014714.4(IFT140):c.3141+1G>T rs764770536
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.3313C>T (p.Gln1105Ter)
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.3489del (p.Asn1163fs) rs2141148172
NM_014714.4(IFT140):c.3502G>T (p.Glu1168Ter)
NM_014714.4(IFT140):c.3640C>T (p.Gln1214Ter) rs2141147087
NM_014714.4(IFT140):c.3672_3673del (p.Leu1225fs) rs754400742
NM_014714.4(IFT140):c.3691_3692del (p.Thr1231fs) rs2141145188
NM_014714.4(IFT140):c.3727C>T (p.Gln1243Ter) rs2141144931
NM_014714.4(IFT140):c.378del (p.Leu127fs)
NM_014714.4(IFT140):c.3891C>A (p.Tyr1297Ter)
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3981del (p.Arg1328fs) rs1431530916
NM_014714.4(IFT140):c.4041-2A>G
NM_014714.4(IFT140):c.482dup (p.Pro162fs) rs763737398
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) rs559314300
NM_014714.4(IFT140):c.54del (p.Ser19fs) rs2142100542
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter) rs2035218747
NM_014714.4(IFT140):c.565del (p.Ser189fs)
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter)
NM_014714.4(IFT140):c.910del (p.Asp304fs)
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) rs1307461796
NM_014714.4:c.(?_-1)_(*1_?)del
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs) rs763953657
NM_019023.5(PRMT7):c.1097G>A (p.Cys366Tyr) rs2151827144
NM_019023.5(PRMT7):c.1239_1246dup (p.Val416fs) rs1567721991
NM_019023.5(PRMT7):c.1276-1G>A rs886039897
NM_019023.5(PRMT7):c.431_432del (p.Glu144fs) rs1567690011
NM_019023.5(PRMT7):c.622del (p.Gln208fs) rs2151732301
NM_019023.5(PRMT7):c.967C>T (p.Gln323Ter)
NM_019023.5(PRMT7):c.98C>A (p.Ser33Ter) rs2151436426
NM_025132.4(WDR19):c.1442A>G (p.His481Arg) rs1729264976
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) rs766616967
NM_030957.3(ADAMTS10):c.[2350C>T];[2521T>C]
NM_030957.4(ADAMTS10):c.1190+1G>A rs431825170
NM_030957.4(ADAMTS10):c.1553G>A (p.Gly518Asp) rs267606636
NM_030957.4(ADAMTS10):c.2098G>T (p.Gly700Cys) rs267606637
NM_030957.4(ADAMTS10):c.709C>T (p.Arg237Ter) rs121434357
NM_030957.4(ADAMTS10):c.952C>T (p.Gln318Ter) rs121434359
NM_139057.4(ADAMTS17):c.2456-1dup rs387906291
NM_139057.4(ADAMTS17):c.652del (p.Asp218fs) rs1555501030
NM_139057.4(ADAMTS17):c.662_665del (p.Glu221fs) rs2142079953
NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter) rs267606638
NM_139057.4(ADAMTS17):c.873+1G>T rs1160509052
Single allele
inv(8)(q13q24.1)
inv(8)(q21.1q24.1)

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