ClinVar Miner

List of variants studied for hereditary skin disorder by 3billion

Included ClinVar conditions (768):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 241
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.650G>A (p.Arg217Gln) rs61754365 0.00143
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser) rs145351589 0.00046
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020 0.00031
NM_018344.6(SLC29A3):c.707C>T (p.Thr236Met) rs147552838 0.00029
NM_000275.3(OCA2):c.1211C>T (p.Thr404Met) rs144812594 0.00023
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_003784.4(SERPINB7):c.796C>T (p.Arg266Ter) rs142859678 0.00019
NM_002386.4(MC1R):c.917G>A (p.Arg306His) rs368507952 0.00016
NR_003051.4(RMRP):n.6C>T rs772443941 0.00016
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099 0.00010
NM_003784.4(SERPINB7):c.522dup (p.Val175fs) rs672601344 0.00009
NM_002386.4(MC1R):c.766C>T (p.Pro256Ser) rs200215218 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_173483.4(CYP4F22):c.1303C>T (p.His435Tyr) rs118203935 0.00008
NM_018344.6(SLC29A3):c.1309G>A (p.Gly437Arg) rs121912584 0.00006
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805 0.00005
NM_002016.2(FLG):c.7487del (p.Thr2496fs) rs774362740 0.00005
NM_000275.3(OCA2):c.2360C>T (p.Ala787Val) rs200457227 0.00004
NM_000372.5(TYR):c.832C>T (p.Arg278Ter) rs62645904 0.00004
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr) rs201382232 0.00004
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) rs752358009 0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00004
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00004
NM_017671.5(FERMT1):c.1792G>A (p.Gly598Arg) rs142825013 0.00004
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693 0.00004
NM_173076.3(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269 0.00004
NM_000195.5(HPS1):c.517C>T (p.Arg173Ter) rs538274657 0.00003
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met) rs772019064 0.00003
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter) rs398123017 0.00003
NM_006846.4(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_000094.4(COL7A1):c.5560G>A (p.Gly1854Arg) rs146234310 0.00002
NM_000094.4(COL7A1):c.8038G>A (p.Gly2680Ser) rs370744140 0.00002
NM_000359.3(TGM1):c.232C>T (p.Arg78Ter) rs760429286 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000372.5(TYR):c.132T>A (p.Ser44Arg) rs755700581 0.00002
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu) rs761051181 0.00002
NM_006846.4(SPINK5):c.1302+4A>T rs201269335 0.00002
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00002
NM_000094.4(COL7A1):c.5047C>T (p.Arg1683Ter) rs760063197 0.00001
NM_000094.4(COL7A1):c.5314C>T (p.Arg1772Trp) rs1032335328 0.00001
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu) rs1233025207 0.00001
NM_000094.4(COL7A1):c.7828C>T (p.Arg2610Ter) rs1064793916 0.00001
NM_000226.4(KRT9):c.488G>A (p.Arg163Gln) rs57758262 0.00001
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val) rs121918168 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000359.3(TGM1):c.541G>A (p.Val181Met) rs778143033 0.00001
NM_000372.5(TYR):c.61C>T (p.Pro21Ser) rs61753178 0.00001
NM_000375.3(UROS):c.7G>T (p.Val3Phe) rs773301339 0.00001
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_000526.5(KRT14):c.766G>T (p.Glu256Ter) rs528295894 0.00001
NM_000526.5(KRT14):c.92del (p.Ile31fs) rs60231560 0.00001
NM_000550.3(TYRP1):c.187G>A (p.Gly63Ser) rs201457510 0.00001
NM_001283009.2(RTEL1):c.1648C>T (p.Arg550Cys) rs369419645 0.00001
NM_001605.3(AARS1):c.1007A>G (p.His336Arg) rs1025002934 0.00001
NM_001605.3(AARS1):c.1664G>T (p.Ser555Ile) rs144982168 0.00001
NM_003722.5(TP63):c.727C>T (p.Arg243Trp) rs121908835 0.00001
NM_004260.4(RECQL4):c.2554_2565dup (p.Ala852_Cys855dup) rs1363648649 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) rs755311638 0.00001
NM_018344.6(SLC29A3):c.300+1G>A rs587780463 0.00001
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350 0.00001
NM_024666.5(AAGAB):c.481C>T (p.Arg161Ter) rs746488412 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter) rs1827161118 0.00001
NM_033305.3(VPS13A):c.8324A>T (p.Lys2775Met) rs760798467 0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys) rs199422301 0.00001
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) rs80338756 0.00001
NR_003051.4(RMRP):n.232C>T rs762145032 0.00001
NR_003051.4(RMRP):n.42G>A rs1156413585 0.00001
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000094.4(COL7A1):c.1606C>T (p.Gln536Ter)
NM_000094.4(COL7A1):c.2858_2859del (p.Glu953fs) rs2107757949
NM_000094.4(COL7A1):c.4635+5G>A rs1170510858
NM_000094.4(COL7A1):c.5017G>A (p.Gly1673Arg) rs2107706875
NM_000094.4(COL7A1):c.5026G>A (p.Gly1676Arg) rs2107706791
NM_000094.4(COL7A1):c.5324del (p.Pro1775fs)
NM_000094.4(COL7A1):c.5668G>A (p.Gly1890Ser) rs2107682264
NM_000094.4(COL7A1):c.6145G>A (p.Gly2049Arg) rs1189071165
NM_000094.4(COL7A1):c.6697G>A (p.Gly2233Ser) rs2107661505
NM_000094.4(COL7A1):c.6759_6760del (p.Gly2254fs)
NM_000094.4(COL7A1):c.6927G>C (p.Lys2309Asn)
NM_000094.4(COL7A1):c.7336G>A (p.Gly2446Arg)
NM_000094.4(COL7A1):c.751C>T (p.Gln251Ter) rs1211890738
NM_000094.4(COL7A1):c.8047-2A>C rs2107633400
NM_000094.4(COL7A1):c.8075G>A (p.Gly2692Asp)
NM_000094.4(COL7A1):c.8109+5G>C
NM_000094.4(COL7A1):c.8117del (p.Pro2706fs) rs34040119
NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter) rs781655324
NM_000107.3(DDB2):c.1234+1del
NM_000107.3(DDB2):c.985C>T (p.His329Tyr) rs1591001619
NM_000123.4(ERCC5):c.380+3A>T
NM_000138.5(FBN1):c.523C>T (p.Pro175Ser) rs891185586
NM_000165.5(GJA1):c.416T>A (p.Ile139Asn) rs2114283459
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) rs1592220915
NM_000226.4(KRT9):c.483T>A (p.Asn161Lys) rs57536312
NM_000226.4(KRT9):c.500A>C (p.Tyr167Ser) rs2144572252
NM_000227.6(LAMA3):c.151dup (p.Val51fs) rs80356678
NM_000228.3(LAMB3):c.1702C>T (p.Gln568Ter) rs1571810782
NM_000228.3(LAMB3):c.298+5G>C
NM_000275.3(OCA2):c.1045-15T>G rs779461179
NM_000275.3(OCA2):c.163dup (p.Ala55fs)
NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys) rs2140706418
NM_000275.3(OCA2):c.1706_1707insT (p.Ala570fs) rs2140704811
NM_000275.3(OCA2):c.1952-7T>G
NM_000275.3(OCA2):c.515+1G>A
NM_000275.3(OCA2):c.808-3C>G
NM_000275.3(OCA2):c.849C>A (p.Ser283Arg) rs143320446
NM_000314.8(PTEN):c.209+2T>A rs878853937
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.964T>C (p.Ser322Pro) rs2139024917
NM_000359.3(TGM1):c.984+1G>A rs749160734
NM_000372.5(TYR):c.1039T>C (p.Phe347Leu) rs2135281765
NM_000372.5(TYR):c.929dup (p.Arg311fs) rs281865527
NM_000380.4(XPA):c.389+1G>A rs1554701931
NM_000421.5(KRT10):c.1373+1G>A rs587776816
NM_000421.5(KRT10):c.470T>G (p.Leu157Arg)
NM_000424.4(KRT5):c.527A>G (p.Asn176Ser) rs59092197
NM_000424.4(KRT5):c.529A>T (p.Asn177Tyr) rs1938679596
NM_000448.3(RAG1):c.1003T>C (p.Cys335Arg) rs2133294899
NM_000516.7(GNAS):c.880dup (p.Gln294fs) rs2146290960
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys) rs60399023
NM_000526.5(KRT14):c.808G>A (p.Val270Met) rs58560979
NM_000526.5(KRT14):c.830G>T (p.Gly277Val) rs2144583128
NM_000550.3(TYRP1):c.913+5G>A rs374769303
NM_001085458.2(CTNND1):c.2233G>T (p.Glu745Ter) rs2137392998
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) rs121918545
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001111.5(ADAR):c.2885+1G>A
NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr) rs2083508651
NM_001139.3(ALOX12B):c.1625_1626del (p.Lys542fs) rs745366046
NM_001264.5(CDSN):c.484C>T (p.Gln162Ter)
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.3807G>C (p.Trp1269Cys) rs2145481109
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001363.5(DKC1):c.1225C>T (p.Pro409Ser) rs2148516431
NM_001363.5(DKC1):c.253G>A (p.Asp85Asn) rs2148509772
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_001366385.1(CARD14):c.349+5G>C rs587777763
NM_001367916.1(MAGT1):c.49G>A (p.Ala17Thr)
NM_001374623.1(PNPLA1):c.1489T>C (p.Ser497Pro)
NM_001374623.1(PNPLA1):c.178G>A (p.Ala60Thr)
NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=) rs748310345
NM_001399.5(EDA):c.1174T>C (p.Ter392Gln) rs2147519482
NM_001399.5(EDA):c.11del (p.Pro4fs) rs1602221405
NM_001399.5(EDA):c.457C>T (p.Arg153Cys) rs397516662
NM_001399.5(EDA):c.466C>T (p.Arg156Cys) rs132630313
NM_001399.5(EDA):c.52_53insTGCGA (p.Arg18fs)
NM_001814.6(CTSC):c.526A>T (p.Lys176Ter)
NM_001854.4(COL11A1):c.2344_2352del (p.Glu782_Gly784del) rs2101750401
NM_001854.4(COL11A1):c.4591G>C (p.Gly1531Arg)
NM_001942.4(DSG1):c.395C>A (p.Ser132Ter) rs2144091452
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.1714C>T (p.Arg572Ter) rs200601767
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2767dup (p.Ser923fs)
NM_002035.4(KDSR):c.544G>A (p.Gly182Ser)
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr)
NM_003183.6(ADAM17):c.1344+1G>A
NM_003784.4(SERPINB7):c.650_653del (p.Ser217fs) rs534014297
NM_004260.4(RECQL4):c.988dup (p.Ala330fs) rs2130718434
NM_004278.4(PIGL):c.154_161del (p.Asp52fs) rs2142610073
NM_004278.4(PIGL):c.262C>G (p.Arg88Gly) rs1064795400
NM_004333.6(BRAF):c.1391G>C (p.Gly464Ala) rs121913348
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1442C>A (p.Ala481Glu) rs397516892
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) rs121913375
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004425.4(ECM1):c.1209_1210insTAGGAAGCCAATTGATATCATAGCTCAGACCATACCTATGTATCCAAATGGTTCTTTTTTTCC (p.Asn404Ter) rs2101440055
NM_004425.4(ECM1):c.1287_1288del (p.Arg430fs) rs2101440353
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs) rs1559369237
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_005144.5(HR):c.2541G>A (p.Trp847Ter) rs2131755289
NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro) rs57052654
NM_005562.3(LAMC2):c.1043del (p.Ile348fs) rs2102228301
NM_005562.3(LAMC2):c.1650C>A (p.Cys550Ter) rs200783718
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter) rs2131023956
NM_006502.3(POLH):c.1561C>T (p.Gln521Ter) rs2127821940
NM_006579.3(EBP):c.440G>A (p.Arg147His) rs28935174
NM_006846.4(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.4(SPINK5):c.2471_2474del (p.Lys824fs)
NM_007315.4(STAT1):c.536_538del (p.Asn179del) rs2125074976
NM_007315.4(STAT1):c.776T>C (p.Leu259Pro) rs2125069735
NM_007315.4(STAT1):c.820C>G (p.Arg274Gly) rs387906758
NM_007315.4(STAT1):c.820C>T (p.Arg274Trp) rs387906758
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
NM_014268.4(MAPRE2):c.367G>A (p.Ala123Thr)
NM_014268.4(MAPRE2):c.427C>T (p.Arg143Cys) rs864309720
NM_014268.4(MAPRE2):c.518G>A (p.Arg173Gln)
NM_015278.5(SASH1):c.1574C>T (p.Thr525Ile)
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
NM_015559.3(SETBP1):c.2322A>G (p.Ala774=) rs2145104146
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) rs122468178
NM_015922.3(NSDHL):c.796C>T (p.His266Tyr)
NM_017671.5(FERMT1):c.676dup (p.Gln226fs) rs748240859
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln) rs886039564
NM_022336.4(EDAR):c.719_722del (p.Lys240fs) rs797044436
NM_030662.4(MAP2K2):c.1198G>T (p.Val400Leu)
NM_030662.4(MAP2K2):c.167C>A (p.Ala56Asp)
NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn) rs886041310
NM_032208.3(ANTXR1):c.561+6G>A
NM_032383.5(HPS3):c.1561del (p.Leu521fs) rs2108158577
NM_144991.3(TSPEAR):c.1785AGA[1] (p.Glu596del)
NM_145861.4(EDARADD):c.359A>C (p.Asp120Ala) rs2103042605
NM_152594.3(SPRED1):c.1062del (p.Asp354fs) rs2141016500
NM_152594.3(SPRED1):c.521_522dup (p.Pro175fs)
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr) rs727505357
NM_173076.3(ABCA12):c.4540C>T (p.Arg1514Cys) rs1266760446
NM_173076.3(ABCA12):c.4676G>T (p.Gly1559Val) rs1457513156
NM_173076.3(ABCA12):c.94T>C (p.Trp32Arg)
NM_173483.4(CYP4F22):c.296G>A (p.Trp99Ter) rs2144518363
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys) rs587777357
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp) rs397515453
NM_181523.3(PIK3R1):c.502+1G>T rs773461483
NM_201384.3(PLEC):c.4903C>T (p.Gln1635Ter)
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC rs1554651349

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