ClinVar Miner

List of variants in gene MVK reported as pathogenic for Porokeratosis 3, disseminated superficial actinic type

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Total variants: 8
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HGVS dbSNP
NM_000431.3(MVK):c.417dupC (p.Gly140Argfs) rs104895373
NM_000431.4(MVK):c.1039+1G>A rs104895362
NM_000431.4(MVK):c.1039+2T>C rs398122910
NM_000431.4(MVK):c.1094T>C (p.Phe365Ser) rs398122911
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.122T>C (p.Leu41Pro) rs397514571
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301
NM_000431.4(MVK):c.764T>C (p.Leu255Pro) rs397514570

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