ClinVar Miner

List of variants reported as uncertain significance for epidermolytic ichthyosis

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000421.5(KRT10):c.98C>T (p.Ser33Phe) rs151149062 0.00021
NM_006121.4(KRT1):c.*372G>A rs886049633 0.00004
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_006121.4(KRT1):c.*72G>T rs1486027458 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.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.1676G>T (p.Gly559Val)
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.1564G>A (p.Gly522Ser) rs1342761835
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

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