ClinVar Miner

List of variants in gene KRT9 reported as likely benign for Palmoplantar keratoderma, epidermolytic

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Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000226.4(KRT9):c.1587T>C (p.Gly529=) rs146001104 0.01208
NM_000226.4(KRT9):c.855G>T (p.Leu285=) rs115349045 0.00468
NM_000226.4(KRT9):c.1045-9G>A rs144984735 0.00464
NM_000226.4(KRT9):c.351T>C (p.Gly117=) rs115965791 0.00458
NM_000226.4(KRT9):c.1395-13C>T rs187834511 0.00437
NM_000226.4(KRT9):c.1170+8G>T rs150892974 0.00360
NM_000226.4(KRT9):c.510G>A (p.Lys170=) rs116096066 0.00354
NM_000226.4(KRT9):c.245G>A (p.Ser82Asn) rs148867398 0.00220
NM_000226.4(KRT9):c.948C>T (p.Gly316=) rs111424754 0.00116
NM_000226.4(KRT9):c.1800C>T (p.Tyr600=) rs148193621 0.00066
NM_000226.4(KRT9):c.1509A>G (p.Gly503=) rs527491908 0.00060
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767 0.00043
NM_000226.4(KRT9):c.-57T>C rs143343698 0.00038
NM_000226.4(KRT9):c.540C>A (p.Asp180Glu) rs114438618 0.00037
NM_000226.4(KRT9):c.222C>T (p.Gly74=) rs114665757 0.00026
NM_000226.4(KRT9):c.437G>A (p.Gly146Asp) rs115534630 0.00015
NM_000226.4(KRT9):c.72C>T (p.Ser24=) rs369925340 0.00005

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