ClinVar Miner

List of variants in gene KRT10 studied for epidermolytic ichthyosis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000421.5(KRT10):c.1459C>T (p.His487Tyr) rs17855579 0.74267
NM_000421.5(KRT10):c.376G>A (p.Gly126Ser) rs77919366 0.17714
NM_000421.5(KRT10):c.98C>T (p.Ser33Phe) rs151149062 0.00021
NM_000421.5(KRT10):c.1749-10A>G rs373397541 0.00017
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

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