ClinVar Miner

List of variants studied for epidermolytic ichthyosis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_000421.5(KRT10):c.1459C>T (p.His487Tyr) rs17855579 0.74267
NM_006121.4(KRT1):c.1389C>T (p.Arg463=) rs936958 0.45526
NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg) rs14024 0.24528
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser) rs77919366 0.17714
NM_006121.4(KRT1):c.*344C>T rs11170231 0.10141
NM_006121.4(KRT1):c.75C>T (p.Ile25=) rs828367 0.02886
NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser) rs17678945 0.01785
NM_006121.4(KRT1):c.1506T>C (p.Ser502=) rs34154891 0.01096
NM_006121.4(KRT1):c.741T>C (p.Ser247=) rs56895471 0.00999
NM_006121.4(KRT1):c.762G>A (p.Ser254=) rs2741155 0.00687
NM_006121.4(KRT1):c.592-8G>A rs147622831 0.00311
NM_006121.4(KRT1):c.1074C>T (p.Tyr358=) rs150503977 0.00201
NM_006121.4(KRT1):c.113G>A (p.Arg38His) rs34787940 0.00148
NM_006121.4(KRT1):c.982A>T (p.Thr328Ser) rs139428176 0.00126
NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly) rs77846840 0.00119
NM_006121.4(KRT1):c.*91T>C rs560913567 0.00096
NM_006121.4(KRT1):c.1677C>T (p.Tyr559=) rs11170232 0.00082
NM_006121.4(KRT1):c.-21C>T rs189087382 0.00062
NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys) rs142781300 0.00046
NM_006121.4(KRT1):c.*95G>A rs144520865 0.00039
NM_000421.5(KRT10):c.98C>T (p.Ser33Phe) rs151149062 0.00021
NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn) rs769218372 0.00018
NM_000421.5(KRT10):c.1749-10A>G rs373397541 0.00017
NM_006121.4(KRT1):c.1511-11T>C rs201036490 0.00013
NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala) rs140098565 0.00009
NM_006121.4(KRT1):c.1035C>T (p.Leu345=) rs192365492 0.00007
NM_006121.4(KRT1):c.1475+14G>A rs369324638 0.00006
NM_006121.4(KRT1):c.*372G>A rs886049633 0.00004
NM_006121.4(KRT1):c.1527C>T (p.His509=) rs371428130 0.00004
NM_006121.4(KRT1):c.45G>A (p.Gly15=) rs549917182 0.00004
NM_006121.4(KRT1):c.1107C>T (p.Ala369=) rs183980482 0.00003
NM_006121.4(KRT1):c.1847G>A (p.Arg616Gln) rs565272443 0.00003
NM_006121.4(KRT1):c.257G>A (p.Arg86His) rs886049637 0.00003
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) rs147040026 0.00002
NM_006121.4(KRT1):c.*72G>T rs1486027458 0.00001
NM_006121.4(KRT1):c.1482T>C (p.Ser494=) rs181516749 0.00001
NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser) rs371843007 0.00001
NM_006121.4(KRT1):c.477G>C (p.Gln159His) rs886049635 0.00001
NM_006121.4(KRT1):c.729C>T (p.Asp243=) rs201069649 0.00001
NM_000421.5(KRT10):c.1155+5G>A rs267607381
NM_000421.5(KRT10):c.1264_1265delinsGA (p.Arg422Glu) rs59075499
NM_000421.5(KRT10):c.1281C>A (p.Cys427Ter) rs387906640
NM_000421.5(KRT10):c.1300C>T (p.Gln434Ter) rs60035576
NM_000421.5(KRT10):c.1304T>G (p.Leu435Arg)
NM_000421.5(KRT10):c.1307T>C (p.Leu436Pro)
NM_000421.5(KRT10):c.1314_1315insC (p.Lys439fs) rs267607379
NM_000421.5(KRT10):c.1315A>G (p.Lys439Glu) rs61434181
NM_000421.5(KRT10):c.1325T>A (p.Leu442Gln) rs58026994
NM_000421.5(KRT10):c.1337T>C (p.Ile446Thr) rs62651994
NM_000421.5(KRT10):c.1374-1G>A rs2143131560
NM_000421.5(KRT10):c.1460_1461insGTTC (p.His487fs) rs1491197463
NM_000421.5(KRT10):c.1639_1653dup (p.543GGGSS[3]) rs752563839
NM_000421.5(KRT10):c.1650_1667dup (p.Gly556_Tyr557insSerSerSerGlyGlyGly)
NM_000421.5(KRT10):c.1654AGCTCCGGCGGCGGATACGGCGGCGGCAGC[3] (p.556GYGGGSSSGG[3]) rs776920005
NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup) rs776920005
NM_000421.5(KRT10):c.1676G>T (p.Gly559Val)
NM_000421.5(KRT10):c.449T>C (p.Met150Thr) rs58901407
NM_000421.5(KRT10):c.449T>G (p.Met150Arg) rs58901407
NM_000421.5(KRT10):c.460A>C (p.Asn154His) rs57784225
NM_000421.5(KRT10):c.466C>T (p.Arg156Cys) rs58852768
NM_000421.5(KRT10):c.467G>A (p.Arg156His) rs58075662
NM_000421.5(KRT10):c.467G>T (p.Arg156Leu) rs58075662
NM_000421.5(KRT10):c.470T>G (p.Leu157Arg) rs2143150768
NM_000421.5(KRT10):c.478T>G (p.Tyr160Asp) rs58414354
NM_000421.5(KRT10):c.482T>C (p.Leu161Ser) rs60118264
NM_000421.5(KRT10):c.49GGA[9] (p.Gly24dup) rs148510452
NM_000421.5(KRT10):c.546T>A (p.Tyr182Ter) rs1597822243
NM_006121.4(KRT1):c.*275G>A rs886049634
NM_006121.4(KRT1):c.1002T>C (p.Asn334=) rs1941526192
NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro) rs1941504357
NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro) rs137853225
NM_006121.4(KRT1):c.1432G>C (p.Glu478Gln) rs59089201
NM_006121.4(KRT1):c.1433A>G (p.Glu478Gly) rs2121000699
NM_006121.4(KRT1):c.1435A>T (p.Ile479Phe) rs61218439
NM_006121.4(KRT1):c.1436T>C (p.Ile479Thr) rs57837128
NM_006121.4(KRT1):c.1445A>G (p.Tyr482Cys) rs58420087
NM_006121.4(KRT1):c.1453C>T (p.Leu485Phe) rs1555171247
NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser) rs1342761835
NM_006121.4(KRT1):c.1757dup (p.Tyr587fs) rs2498629912
NM_006121.4(KRT1):c.1912A>T (p.Thr638Ser) rs140098565
NM_006121.4(KRT1):c.302G>T (p.Gly101Val) rs147840212
NM_006121.4(KRT1):c.374G>A (p.Gly125Asp) rs886049636
NM_006121.4(KRT1):c.464T>A (p.Val155Asp) rs57959072
NM_006121.4(KRT1):c.482T>C (p.Leu161Pro) rs57695159
NM_006121.4(KRT1):c.532T>C (p.Ser178Pro) rs1941559064
NM_006121.4(KRT1):c.559C>T (p.Leu187Phe) rs59151464
NM_006121.4(KRT1):c.560T>C (p.Leu187Pro) rs2498637710
NM_006121.4(KRT1):c.563A>G (p.Asn188Ser) rs58928370
NM_006121.4(KRT1):c.563A>T (p.Asn188Ile) rs58928370
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) rs59429455
NM_006121.4(KRT1):c.564C>G (p.Asn188Lys) rs59429455
NM_006121.4(KRT1):c.591+1G>C rs267607422
NM_006121.4(KRT1):c.623T>C (p.Leu208Pro) rs61616632
NM_006121.4(KRT1):c.931G>C (p.Glu311Gln) rs137853224

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