ClinVar Miner

List of variants in gene MVK reported by Mendelics

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Gene type:
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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.689_690del (p.Leu230fs) rs1593026935

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