ClinVar Miner

List of variants studied for hereditary epidermal appendage anomaly by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (216):
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_001099274.3(TINF2):c.62A>G (p.Gln21Arg) rs367835995 0.00006
NM_004278.4(PIGL):c.263G>A (p.Arg88His) rs755380500 0.00004
NM_001854.4(COL11A1):c.3817-10C>A rs776718424 0.00003
NM_025132.4(WDR19):c.3874T>C (p.Cys1292Arg) rs766752510 0.00003
NM_002448.3(MSX1):c.89G>A (p.Gly30Asp) rs1414674827 0.00001
NM_025132.4(WDR19):c.291-12_291-11del rs1324399102 0.00001
NM_030662.4(MAP2K2):c.661G>A (p.Asp221Asn) rs2041001051 0.00001
NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter) rs2062434410
NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter) rs2071063100
NM_001166114.2(PNPLA6):c.3298G>A (p.Val1100Met) rs587777182
NM_001363.5(DKC1):c.133G>A (p.Ala45Thr) rs2071733846
NM_001399.5(EDA):c.826C>T (p.Arg276Cys) rs387907197
NM_001793.6(CDH3):c.2087del (p.Asp696fs) rs1961688932
NM_001854.4(COL11A1):c.1999-10T>C rs1665243141
NM_001854.4(COL11A1):c.2590A>C (p.Asn864His) rs1557897680
NM_001854.4(COL11A1):c.385G>A (p.Val129Ile) rs1672174219
NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln) rs528959090
NM_003722.5(TP63):c.1169T>A (p.Ile390Asn) rs1718128235
NM_004278.4(PIGL):c.176C>A (p.Pro59His) rs1057518948
NM_004278.4(PIGL):c.725G>C (p.Arg242Pro) rs750654333
NM_004333.6(BRAF):c.1146G>C (p.Leu382Phe) rs1801519948
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.67A>G (p.Met23Val) rs1818671266
NM_004333.6(BRAF):c.712-221T>C rs1803141356
NM_004333.6(BRAF):c.789_790del (p.Cys264fs) rs1803104915
NM_004985.5(KRAS):c.534_536del (p.Lys180del) rs1373386042
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) rs1553253990
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) rs1553253989
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly) rs986339998
NM_024589.3(ROGDI):c.29C>G (p.Ala10Gly) rs1324617654
NM_024589.3(ROGDI):c.432+1dup rs2082694047
NM_024589.3(ROGDI):c.727C>G (p.His243Asp) rs2082670659
NM_032208.3(ANTXR1):c.80G>T (p.Gly27Val) rs1558726190
NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC
NM_147127.5(EVC2):c.1882G>T (p.Glu628Ter) rs186197620

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