ClinVar Miner

List of variants studied for hereditary skin disorder by Revvity Omics, Revvity

Included ClinVar conditions (790):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 402
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033 0.00397
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys) rs184868814 0.00159
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu) rs61729285 0.00106
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00102
NM_181507.2(HPS5):c.241G>A (p.Ala81Thr) rs147053126 0.00102
NM_006502.3(POLH):c.698A>G (p.Asn233Ser) rs61756403 0.00083
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_000195.5(HPS1):c.122C>T (p.Pro41Leu) rs142934882 0.00068
NM_000195.5(HPS1):c.787C>T (p.Arg263Trp) rs145042327 0.00065
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val) rs142983846 0.00054
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00052
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln) rs138936105 0.00046
NM_000081.4(LYST):c.143A>G (p.His48Arg) rs200132460 0.00046
NM_000081.4(LYST):c.692A>G (p.Gln231Arg) rs147433918 0.00043
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_000081.4(LYST):c.6682G>C (p.Asp2228His) rs150270086 0.00042
NM_032383.5(HPS3):c.592G>A (p.Val198Ile) rs144990171 0.00039
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) rs148239625 0.00034
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_032383.5(HPS3):c.1330C>A (p.His444Asn) rs138303522 0.00026
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_000375.3(UROS):c.217T>C (p.Cys73Arg) rs121908012 0.00022
NM_014339.7(IL17RA):c.2483T>A (p.Leu828His) rs373598318 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000081.4(LYST):c.997C>T (p.His333Tyr) rs140821981 0.00021
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912 0.00021
NM_012275.3(IL36RN):c.115+6T>C rs148755083 0.00021
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter) rs200389141 0.00017
NM_002510.3(GPNMB):c.565C>T (p.Arg189Ter) rs140352180 0.00016
NM_006556.4(PMVK):c.79G>T (p.Glu27Ter) rs373000976 0.00016
NM_033305.3(VPS13A):c.7096C>T (p.Pro2366Ser) rs200107412 0.00016
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn) rs148371004 0.00014
NM_004628.5(XPC):c.259G>C (p.Val87Leu) rs374572265 0.00014
NM_000081.4(LYST):c.2438G>A (p.Arg813Gln) rs558162561 0.00013
NM_001082486.2(ACD):c.482C>T (p.Ser161Leu) rs149051014 0.00013
NM_033305.3(VPS13A):c.5047A>G (p.Thr1683Ala) rs371138709 0.00013
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000081.4(LYST):c.2826A>G (p.Pro942=) rs149558986 0.00010
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp) rs200276917 0.00010
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter) rs567795279 0.00010
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter) rs373525781 0.00009
NM_000081.4(LYST):c.6332C>A (p.Thr2111Asn) rs138179493 0.00009
NM_003784.4(SERPINB7):c.522dup (p.Val175fs) rs672601344 0.00009
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys) rs140387675 0.00008
NM_000057.4(BLM):c.664G>A (p.Glu222Lys) rs774075577 0.00008
NM_000081.4(LYST):c.949G>A (p.Glu317Lys) rs201337542 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_000359.3(TGM1):c.420A>G (p.Ile140Met) rs139208806 0.00008
NM_032383.5(HPS3):c.338T>G (p.Val113Gly) rs763529688 0.00008
NM_033305.3(VPS13A):c.9128A>G (p.Asn3043Ser) rs200755494 0.00008
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) rs118203935 0.00008
NM_000081.4(LYST):c.3931A>G (p.Met1311Val) rs376718077 0.00007
NM_000081.4(LYST):c.476G>A (p.Arg159Lys) rs111806240 0.00007
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_000081.4(LYST):c.4983G>A (p.Leu1661=) rs1482156206 0.00006
NM_000380.4(XPA):c.122C>T (p.Ala41Val) rs778289269 0.00006
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala) rs199562456 0.00006
NM_018344.6(SLC29A3):c.1204G>A (p.Val402Ile) rs1009541174 0.00006
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met) rs769471250 0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_002016.2(FLG):c.7487del (p.Thr2496fs) rs774362740 0.00005
NM_003784.4(SERPINB7):c.157C>T (p.Gln53Ter) rs199555021 0.00005
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu) rs147342916 0.00005
NM_024666.5(AAGAB):c.370C>T (p.Arg124Ter) rs200564757 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000081.4(LYST):c.1290G>A (p.Met430Ile) rs779163460 0.00004
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) rs118204101 0.00004
NM_000375.3(UROS):c.683C>T (p.Thr228Met) rs121908014 0.00004
NM_004425.4(ECM1):c.1019del (p.Gln340fs) rs778473713 0.00004
NM_006846.4(SPINK5):c.891C>T (p.Cys297=) rs752941297 0.00004
NM_015065.3(EXPH5):c.939del (p.Asn314fs) rs747159785 0.00004
NM_022081.6(HPS4):c.649C>T (p.Arg217Ter) rs119471023 0.00004
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276 0.00004
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.403G>T (p.Ala135Ser) rs373832397 0.00003
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile) rs776033238 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000081.4(LYST):c.85G>A (p.Ala29Thr) rs755173231 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717 0.00003
NM_001005337.3(PKP1):c.136A>T (p.Met46Leu) rs369806569 0.00003
NM_002016.2(FLG):c.138+1G>C rs756254959 0.00003
NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg) rs772598451 0.00003
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe) rs760132893 0.00003
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter) rs367543028 0.00002
NM_000081.4(LYST):c.10286T>G (p.Ile3429Ser) rs760815034 0.00002
NM_024101.7(MLPH):c.70C>T (p.Arg24Ter) rs140470472 0.00002
NM_024747.6(HPS6):c.2044C>T (p.Arg682Cys) rs749139864 0.00002
NM_000057.4(BLM):c.1301C>G (p.Ser434Ter) rs754203833 0.00001
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs) rs786204471 0.00001
NM_000057.4(BLM):c.572G>T (p.Arg191Ile) rs569086568 0.00001
NM_000081.4(LYST):c.11116T>A (p.Cys3706Ser) rs1481260242 0.00001
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr) rs376496670 0.00001
NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp) rs761351181 0.00001
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) rs575222284 0.00001
NM_000195.5(HPS1):c.988-1G>T rs764927038 0.00001
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln) rs57758262 0.00001
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp) rs761817519 0.00001
NM_000359.3(TGM1):c.652G>A (p.Gly218Ser) rs121918732 0.00001
NM_000359.3(TGM1):c.790C>T (p.Arg264Trp) rs201868387 0.00001
NM_000374.5(UROD):c.138T>A (p.Phe46Leu) rs769378741 0.00001
NM_000374.5(UROD):c.616C>T (p.Gln206Ter) rs771824413 0.00001
NM_000427.3(LORICRIN):c.624C>G (p.Tyr208Ter) rs888685157 0.00001
NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr) rs200663524 0.00001
NM_002016.2(FLG):c.2779C>T (p.Gln927Ter) rs763988476 0.00001
NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs) rs775716153 0.00001
NM_002016.2(FLG):c.6014_6015del (p.His2005fs) rs1314484669 0.00001
NM_004628.5(XPC):c.940C>T (p.Arg314Trp) rs914274804 0.00001
NM_006218.4(PIK3CA):c.644G>A (p.Cys215Tyr) rs1724405220 0.00001
NM_024589.3(ROGDI):c.117+1G>A rs570952151 0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=) rs749782882 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_031307.4(PUS3):c.1303C>T (p.Arg435Ter) rs774005569 0.00001
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) rs1055609567 0.00001
NM_000031.6(ALAD):c.415G>A (p.Gly139Arg)
NM_000057.4(BLM):c.1088C>T (p.Ala363Val) rs1567040460
NM_000057.4(BLM):c.1341del (p.Asn448fs) rs2151158046
NM_000057.4(BLM):c.1624del (p.Asp542fs) rs747498968
NM_000057.4(BLM):c.1817_1820del (p.Asp606fs) rs1555419980
NM_000057.4(BLM):c.1985_1986del (p.Lys662fs) rs762804291
NM_000057.4(BLM):c.2583T>C (p.Asn861=) rs1896651230
NM_000057.4(BLM):c.2584C>A (p.Leu862Met)
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3638del (p.Glu1213fs) rs1057516547
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile) rs1249106324
NM_000057.4(BLM):c.397dup (p.Asp133fs) rs2151147279
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.479_480del (p.Asp159_Phe160insTer) rs1555418352
NM_000057.4(BLM):c.598A>G (p.Thr200Ala) rs1895627174
NM_000057.4(BLM):c.608_609del (p.Thr203fs) rs1170049553
NM_000057.4(BLM):c.800-2A>G rs1895690125
NM_000057.4(BLM):c.83C>G (p.Ser28Ter) rs2151145090
NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)
NM_000081.4(LYST):c.10373C>A (p.Pro3458Gln)
NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)
NM_000081.4(LYST):c.10586C>T (p.Thr3529Met)
NM_000081.4(LYST):c.10630A>G (p.Asn3544Asp)
NM_000081.4(LYST):c.10669G>T (p.Val3557Leu)
NM_000081.4(LYST):c.10700A>G (p.Gln3567Arg)
NM_000081.4(LYST):c.10916C>T (p.Thr3639Ile)
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
NM_000081.4(LYST):c.10G>A (p.Asp4Asn)
NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
NM_000081.4(LYST):c.11368A>G (p.Met3790Val)
NM_000081.4(LYST):c.1412C>T (p.Ala471Val)
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.149G>A (p.Arg50Gln)
NM_000081.4(LYST):c.1536T>A (p.His512Gln)
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
NM_000081.4(LYST):c.1625A>G (p.Tyr542Cys)
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.1739T>C (p.Ile580Thr)
NM_000081.4(LYST):c.1746A>G (p.Ile582Met)
NM_000081.4(LYST):c.1880A>C (p.Glu627Ala)
NM_000081.4(LYST):c.1888C>G (p.Pro630Ala)
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.4(LYST):c.2147G>A (p.Cys716Tyr)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2437del (p.Arg813fs)
NM_000081.4(LYST):c.2443C>T (p.His815Tyr)
NM_000081.4(LYST):c.2455G>A (p.Ala819Thr)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.2539_2541del (p.Lys847del)
NM_000081.4(LYST):c.253A>G (p.Lys85Glu)
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
NM_000081.4(LYST):c.2642C>T (p.Ala881Val)
NM_000081.4(LYST):c.2656C>T (p.Arg886Trp)
NM_000081.4(LYST):c.2657G>A (p.Arg886Gln)
NM_000081.4(LYST):c.2677G>A (p.Val893Ile)
NM_000081.4(LYST):c.2745delinsGGCC (p.Ser915_Asp916insAla)
NM_000081.4(LYST):c.285T>C (p.Asp95=)
NM_000081.4(LYST):c.285T>G (p.Asp95Glu) rs747965676
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.310A>G (p.Ile104Val)
NM_000081.4(LYST):c.3142A>G (p.Ile1048Val)
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
NM_000081.4(LYST):c.3205C>T (p.His1069Tyr)
NM_000081.4(LYST):c.3266A>G (p.Lys1089Arg)
NM_000081.4(LYST):c.345A>G (p.Gln115=)
NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg)
NM_000081.4(LYST):c.3627T>G (p.Cys1209Trp)
NM_000081.4(LYST):c.3647T>C (p.Val1216Ala)
NM_000081.4(LYST):c.3650AAG[2] (p.Glu1219del) rs770679237
NM_000081.4(LYST):c.3989A>G (p.Asp1330Gly)
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
NM_000081.4(LYST):c.4040C>T (p.Ser1347Phe)
NM_000081.4(LYST):c.4071G>C (p.Glu1357Asp)
NM_000081.4(LYST):c.4108C>G (p.Pro1370Ala)
NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4544-3T>C
NM_000081.4(LYST):c.5153G>A (p.Arg1718Gln)
NM_000081.4(LYST):c.5323T>C (p.Phe1775Leu)
NM_000081.4(LYST):c.5349C>G (p.Ile1783Met)
NM_000081.4(LYST):c.53G>A (p.Arg18Gln)
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
NM_000081.4(LYST):c.5608T>C (p.Cys1870Arg)
NM_000081.4(LYST):c.5636C>T (p.Thr1879Ile)
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
NM_000081.4(LYST):c.5704G>A (p.Val1902Ile)
NM_000081.4(LYST):c.6065C>T (p.Pro2022Leu)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.6158T>C (p.Met2053Thr)
NM_000081.4(LYST):c.6189G>T (p.Arg2063Ser)
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
NM_000081.4(LYST):c.6475G>T (p.Gly2159Cys)
NM_000081.4(LYST):c.6548C>G (p.Ala2183Gly)
NM_000081.4(LYST):c.655A>G (p.Met219Val)
NM_000081.4(LYST):c.656T>C (p.Met219Thr)
NM_000081.4(LYST):c.6668G>T (p.Cys2223Phe)
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.4(LYST):c.6856T>G (p.Tyr2286Asp)
NM_000081.4(LYST):c.6866C>G (p.Thr2289Ser)
NM_000081.4(LYST):c.737T>C (p.Val246Ala)
NM_000081.4(LYST):c.7439C>A (p.Ala2480Asp)
NM_000081.4(LYST):c.7619G>A (p.Arg2540Lys)
NM_000081.4(LYST):c.7636G>A (p.Val2546Ile)
NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)
NM_000081.4(LYST):c.7974A>C (p.Glu2658Asp)
NM_000081.4(LYST):c.8358+2T>C
NM_000081.4(LYST):c.8447T>A (p.Leu2816Gln)
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.4(LYST):c.9233G>A (p.Arg3078His)
NM_000081.4(LYST):c.9338A>G (p.Asn3113Ser)
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
NM_000081.4(LYST):c.9647G>A (p.Arg3216His)
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.4(LYST):c.9776C>T (p.Ala3259Val)
NM_000081.4(LYST):c.9920G>T (p.Arg3307Leu)
NM_000081.4(LYST):c.9938G>A (p.Gly3313Asp)
NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs)
NM_000081.4(LYST):c.9944G>A (p.Arg3315His)
NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)
NM_000140.5(FECH):c.286C>T (p.Arg96Ter) rs984041251
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.826-2A>T rs1946317952
NM_000195.5(HPS1):c.1073A>T (p.Lys358Met)
NM_000195.5(HPS1):c.1189del (p.Gln397fs) rs281865084
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs) rs281865163
NM_000195.5(HPS1):c.1857+1G>A rs2136102397
NM_000195.5(HPS1):c.437G>A (p.Trp146Ter)
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter) rs750909242
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) rs57536312
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000353.3(TAT):c.805G>A (p.Asp269Asn)
NM_000359.3(TGM1):c.1082T>C (p.Ile361Thr) rs1057517837
NM_000359.3(TGM1):c.1318G>T (p.Asp440Tyr)
NM_000359.3(TGM1):c.1401dup (p.Gly468fs)
NM_000359.3(TGM1):c.365C>A (p.Ser122Ter)
NM_000359.3(TGM1):c.944G>A (p.Arg315His) rs143473912
NM_000374.5(UROD):c.758dup (p.Ala254fs)
NM_000380.4(XPA):c.10del (p.Ala4fs) rs779161471
NM_000380.4(XPA):c.349_353del (p.Leu117fs) rs1200172747
NM_000380.4(XPA):c.733G>A (p.Glu245Lys)
NM_000380.4(XPA):c.759dup (p.Asp254fs)
NM_000427.3(LORICRIN):c.684dup (p.Ser229fs) rs886041212
NM_001005337.3(PKP1):c.475C>A (p.Leu159Ile)
NM_001085458.2(CTNND1):c.1754del (p.Asn585fs) rs2137277484
NM_001085458.2(CTNND1):c.1837C>T (p.Pro613Ser)
NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)
NM_001110.4(ADAM10):c.2026G>A (p.Ala676Thr)
NM_001110.4(ADAM10):c.846T>A (p.Asp282Glu)
NM_001126049.2(KLLN):c.184C>G (p.Arg62Gly)
NM_001142730.3(KCTD1):c.1882C>A (p.Pro628Thr)
NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly) rs2018180805
NM_001320752.2(STS):c.437del (p.Pro146fs) rs2147089236
NM_001378687.1(ATP2C1):c.2375_2378del (p.Phe792fs) rs1057517706
NM_001382347.1(MYO5A):c.1930C>T (p.His644Tyr)
NM_001382347.1(MYO5A):c.2527G>A (p.Val843Ile)
NM_001922.5(DCT):c.100A>C (p.Ser34Arg)
NM_002016.2(FLG):c.10051_10054del (p.Asp3351fs) rs746608568
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.3280C>A (p.Pro1094Thr)
NM_002016.2(FLG):c.3766C>T (p.Gln1256Ter) rs751147313
NM_002204.4(ITGA3):c.2995G>A (p.Val999Met)
NM_002281.4(KRT81):c.2T>G (p.Met1Arg)
NM_002332.3(LRP1):c.7896C>A (p.Asp2632Glu)
NM_002332.3(LRP1):c.8999A>G (p.His3000Arg)
NM_002461.3(MVD):c.1013+1G>T rs780212718
NM_002510.3(GPNMB):c.319_332del (p.Lys107fs) rs758729806
NM_002666.5(PLIN1):c.1280A>G (p.Glu427Gly)
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
NM_003664.5(AP3B1):c.280-2A>G
NM_004278.4(PIGL):c.494+1G>A rs2142864883
NM_004425.4(ECM1):c.233del (p.Pro78fs) rs768474010
NM_004628.5(XPC):c.1246C>T (p.Arg416Cys)
NM_004628.5(XPC):c.1872+1G>C rs1559374923
NM_004628.5(XPC):c.2152C>T (p.Arg718Ter) rs754775337
NM_004628.5(XPC):c.806C>G (p.Ala269Gly)
NM_005333.5(HCCS):c.520G>T (p.Ala174Ser)
NM_005357.4(LIPE):c.2461C>T (p.Arg821Cys)
NM_006218.4(PIK3CA):c.2667-20G>A
NM_006502.3(POLH):c.1613T>C (p.Leu538Pro)
NM_006846.4(SPINK5):c.2042G>A (p.Arg681Lys)
NM_006846.4(SPINK5):c.209+1G>A rs1752708600
NM_012232.6(CAVIN1):c.256G>A (p.Val86Met)
NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln)
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs) rs1207466199
NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val)
NM_012232.6(CAVIN1):c.743C>G (p.Thr248Ser)
NM_012232.6(CAVIN1):c.847C>T (p.Pro283Ser)
NM_012232.6(CAVIN1):c.905C>T (p.Thr302Met)
NM_012232.6(CAVIN1):c.917T>C (p.Val306Ala)
NM_013386.5(SLC25A24):c.1A>C (p.Met1Leu)
NM_014339.7(IL17RA):c.1324A>G (p.Lys442Glu)
NM_014339.7(IL17RA):c.1955C>G (p.Pro652Arg)
NM_014908.4(DOLK):c.1105G>A (p.Val369Ile)
NM_014908.4(DOLK):c.1505G>C (p.Ser502Thr)
NM_017410.3(HOXC13):c.325C>T (p.Pro109Ser)
NM_017410.3(HOXC13):c.932G>C (p.Arg311Pro)
NM_017671.5(FERMT1):c.373del (p.Cys125fs) rs869312723
NM_020529.3(NFKBIA):c.584A>G (p.Tyr195Cys)
NM_021101.5(CLDN1):c.141C>A (p.Tyr47Ter) rs773766654
NM_021628.3(ALOXE3):c.1432del (p.Ser478fs) rs2151838171
NM_021628.3(ALOXE3):c.1525C>T (p.Arg509Ter) rs754701941
NM_021628.3(ALOXE3):c.352+1G>T
NM_021978.4(ST14):c.241+1G>A rs2136211819
NM_022081.6(HPS4):c.1152del (p.Gly385fs) rs2146555632
NM_022662.4(ANAPC1):c.1452A>T (p.Lys484Asn)
NM_022662.4(ANAPC1):c.236G>A (p.Gly79Glu)
NM_024101.7(MLPH):c.1552C>G (p.Arg518Gly)
NM_024101.7(MLPH):c.332+1G>T rs2106291953
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter) rs1555491350
NM_024589.3(ROGDI):c.531+5G>T
NM_024666.5(AAGAB):c.61C>T (p.Gln21Ter) rs1567037561
NM_024666.5(AAGAB):c.778G>T (p.Glu260Ter)
NM_024747.6(HPS6):c.1136C>A (p.Ser379Ter)
NM_024747.6(HPS6):c.1411C>T (p.Gln471Ter) rs1590263662
NM_024747.6(HPS6):c.1789del (p.Ala597fs)
NM_024747.6(HPS6):c.370G>T (p.Gly124Trp) rs766916912
NM_030662.4(MAP2K2):c.181A>G (p.Lys61Glu) rs730880517
NM_030916.3(NECTIN4):c.1490C>T (p.Thr497Met)
NM_031307.4(PUS3):c.17_18del (p.Thr6fs) rs1208593429
NM_031307.4(PUS3):c.476G>A (p.Arg159His)
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) rs1309602954
NM_032383.5(HPS3):c.1509+1G>A rs746906314
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108
NM_032782.5(HAVCR2):c.523-1G>A
NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter) rs2131030007
NM_033305.3(VPS13A):c.1616C>G (p.Ser539Ter)
NM_033305.3(VPS13A):c.6059del (p.Pro2020fs) rs781242821
NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys)
NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs) rs1485186943
NM_033305.3(VPS13A):c.7027-1G>A
NM_033305.3(VPS13A):c.7419+1G>A rs763654348
NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr)
NM_033305.3(VPS13A):c.844_848del (p.Glu282fs)
NM_033305.3(VPS13A):c.8744-2A>G
NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs)
NM_033305.3(VPS13A):c.9431_9432del (p.Glu3144fs) rs1085307750
NM_052872.4(IL17F):c.298G>T (p.Ala100Ser)
NM_052989.3(IFT122):c.197A>C (p.Lys66Thr)
NM_052989.3(IFT122):c.3426_3430del (p.Ser1143fs) rs1299632365
NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)
NM_052989.3(IFT122):c.3616A>G (p.Met1206Val)
NM_052989.3(IFT122):c.535A>G (p.Ile179Val)
NM_052989.3(IFT122):c.94G>A (p.Gly32Arg)
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.297-1G>A
NM_058172.6(ANTXR2):c.297-2del rs2110109074
NM_138701.4(MPLKIP):c.229del (p.Arg77fs) rs2150561563
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile)
NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala)
NM_181507.2(HPS5):c.1423del (p.Leu475fs) rs766602179
NM_181507.2(HPS5):c.2295G>C (p.Leu765Phe)
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.259G>A (p.Ala87Thr)
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
NM_201631.4(TGM5):c.1518A>T (p.Gln506His)
NM_201631.4(TGM5):c.380C>T (p.Ser127Phe)
NM_201631.4(TGM5):c.393C>A (p.Tyr131Ter) rs755448082
NM_201631.4(TGM5):c.829C>T (p.Gln277Ter) rs1045182796

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