ClinVar Miner

List of variants reported as pathogenic for keratinopathic ichthyosis by OMIM

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
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.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.1373+1G>A rs587776816
NM_000421.5(KRT10):c.1373+1del rs2143133654
NM_000421.5(KRT10):c.1374-1G>C rs2143131560
NM_000421.5(KRT10):c.1374-2A>G rs587776815
NM_000421.5(KRT10):c.1403_1417delinsA (p.Ser468fs) rs2143130756
NM_000421.5(KRT10):c.1449dup (p.Gly484fs) rs587776817
NM_000421.5(KRT10):c.1560_1561del (p.Gly521fs) rs267607384
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.478T>G (p.Tyr160Asp) rs58414354
NM_000421.5(KRT10):c.482T>C (p.Leu161Ser) rs60118264
NM_000423.3(KRT2):c.1426G>A (p.Glu476Lys) rs56829062
NM_000423.3(KRT2):c.1435A>C (p.Thr479Pro) rs137852630
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys) rs137852629
NM_000423.3(KRT2):c.1461G>T (p.Glu487Asp) rs137852628
NM_000423.3(KRT2):c.542A>C (p.Gln181Pro) rs57510142
NM_000423.3(KRT2):c.556A>G (p.Asn186Asp) rs137852631
NM_000423.3(KRT2):c.556A>T (p.Asn186Tyr) rs137852631
NM_000423.3(KRT2):c.558C>A (p.Asn186Lys) rs137852632
NM_006121.4(KRT1):c.1424T>C (p.Leu475Pro) rs137853225
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.1556del (p.Gly519fs) rs58373389
NM_006121.4(KRT1):c.1577del (p.Gly526fs)
NM_006121.4(KRT1):c.1609_1610delinsA (p.Gly537fs) rs59169454
NM_006121.4(KRT1):c.1757dup (p.Tyr587fs)
NM_006121.4(KRT1):c.1860dup (p.Gly621fs)
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.560T>C (p.Leu187Pro)
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys) rs59429455
NM_006121.4(KRT1):c.931G>C (p.Glu311Gln) rs137853224

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