ClinVar Miner

List of variants in gene MVK reported as likely pathogenic

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Total variants: 19
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HGVS dbSNP
NC_000012.11:g.(?_110012646_110013970del
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.349_350del (p.Leu117fs) rs1593015642
NM_000431.4(MVK):c.494C>T (p.Pro165Leu) rs121917790
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300
NM_000431.4(MVK):c.608T>C (p.Val203Ala) rs104895332
NM_000431.4(MVK):c.60T>A (p.His20Gln) rs104895335
NM_000431.4(MVK):c.634G>A (p.Gly212Arg) rs1555278380
NM_000431.4(MVK):c.689_690del (p.Leu230fs) rs1593026935
NM_000431.4(MVK):c.768+4A>G rs1295630463
NM_000431.4(MVK):c.78+1G>A
NM_000431.4(MVK):c.79-2A>G
NM_000431.4(MVK):c.794T>G (p.Leu265Arg) rs104895316
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079
NM_000431.4(MVK):c.850del (p.Glu284fs)
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.943_944del (p.Leu315fs)
NM_000431.4(MVK):c.987C>G (p.Ser329Arg)

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