ClinVar Miner

List of variants in gene MVK reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_000431.4(MVK):c.1074G>A (p.Gln358=) rs1566153756
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.155G>T (p.Ser52Ile)
NM_000431.4(MVK):c.298G>A (p.Asp100Asn)
NM_000431.4(MVK):c.29C>T (p.Ala10Val)
NM_000431.4(MVK):c.349C>T (p.Leu117=) rs374204972
NM_000431.4(MVK):c.518G>A (p.Cys173Tyr) rs1267793765
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301
NM_000431.4(MVK):c.634G>A (p.Gly212Arg) rs1555278380
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.787C>T (p.Pro263Ser)
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000431.4(MVK):c.927C>T (p.Gly309=)
NM_000431.4(MVK):c.936C>T (p.His312=) rs1212639017
NM_000431.4(MVK):c.943_944del (p.Leu315fs)
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620

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