ClinVar Miner

List of variants reported as pathogenic for autosomal ichthyosis syndrome by Invitae

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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HGVS dbSNP
NC_000003.11:g.(?_4403818)_(4459826_?)del
NC_000003.11:g.(?_4403818)_(4494743_?)del
NC_000003.12:g.(?_4362124)_(4467265_?)del
NC_000003.12:g.(?_4410855)_(4467255_?)del
NC_000003.12:g.(?_4449256)_(4467255_?)del
NC_000003.12:g.(?_4452866)_(4467255_?)del
NC_000005.9:g.(?_147443360)_(147484583_?)del
NC_000006.11:g.(?_137187755)_(137193401_?)del
NM_000288.4(PEX7):c.112C>T (p.Gln38Ter)
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter) rs61753238
NM_000288.4(PEX7):c.130+1G>A rs267608253
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.183del (p.Phe61fs) rs774131564
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter) rs763514968
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter) rs121909154
NM_000288.4(PEX7):c.364del (p.Thr122fs)
NM_000288.4(PEX7):c.429del (p.Val144fs) rs61753248
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000288.4(PEX7):c.474_477del (p.Tyr159fs)
NM_000288.4(PEX7):c.49_70dup (p.Phe24fs)
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter) rs764924345
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter) rs121909153
NM_000288.4(PEX7):c.860_861del (p.Glu287fs)
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_001127698.2(SPINK5):c.1431-12G>A rs368134354
NM_001127698.2(SPINK5):c.2557C>T (p.Arg853Ter) rs753621591
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_006846.3(SPINK5):c.1048C>T (p.Arg350Ter) rs373463881
NM_006846.3(SPINK5):c.1089T>G (p.Tyr363Ter) rs752777832
NM_006846.3(SPINK5):c.1302+4A>T rs201269335
NM_006846.3(SPINK5):c.1437del (p.Glu480fs) rs1554104853
NM_006846.3(SPINK5):c.1888-1G>A rs759255682
NM_006846.3(SPINK5):c.1915_1916del (p.Leu639fs) rs1581096271
NM_006846.3(SPINK5):c.238dup (p.Ala80fs)
NM_006846.3(SPINK5):c.2468dup (p.Lys824fs) rs565782662
NM_006846.3(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225
NM_006846.3(SPINK5):c.355_371delinsGACAACATATGACAACAGATGAC (p.Cys119_Lys124delinsAspAsnIleTer) rs1581064755
NM_006846.3(SPINK5):c.690del (p.Lys230fs) rs1561684604
NM_006846.3(SPINK5):c.81+2T>A rs1131691490
NM_006846.4(SPINK5):c.1000C>T (p.Gln334Ter)
NM_006846.4(SPINK5):c.1012C>T (p.Gln338Ter)
NM_006846.4(SPINK5):c.1111C>T (p.Arg371Ter)
NM_006846.4(SPINK5):c.1825C>T (p.Gln609Ter)
NM_006846.4(SPINK5):c.2038_2039del (p.Lys680fs)
NM_006846.4(SPINK5):c.2579del (p.Lys860fs) rs1362009010
NM_006846.4(SPINK5):c.2611C>T (p.Arg871Ter)
NM_006846.4(SPINK5):c.2671C>T (p.Arg891Ter)
NM_006846.4(SPINK5):c.316_317del (p.Asp106fs)
NM_006846.4(SPINK5):c.374del (p.Thr125fs) rs1419297868
NM_006846.4(SPINK5):c.67A>T (p.Lys23Ter)
NM_006846.4(SPINK5):c.850del (p.Glu284fs) rs1581074967
NM_058179.4(PSAT1):c.178del (p.Val60fs) rs1564012541
NM_058179.4(PSAT1):c.420G>A (p.Trp140Ter) rs1008314756
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
NM_182760.4(SUMF1):c.191del (p.Ser64fs)
NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter) rs1575266034
NM_182760.4(SUMF1):c.266del (p.His88_Ser89insTer)
NM_182760.4(SUMF1):c.339dup (p.Ala114fs)
NM_182760.4(SUMF1):c.43G>T (p.Glu15Ter)
NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter)
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro) rs137852850
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter)
NM_182760.4(SUMF1):c.519+5_519+8del rs775324176
NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter) rs1575197564
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg) rs1064793391
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849

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