ClinVar Miner

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

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Gene type:
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Total variants: 8
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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.518G>A (p.Cys173Tyr) rs1267793765
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.936C>T (p.His312=) rs1212639017

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