ClinVar Miner

List of variants in gene MPV17 reported by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NG_008075.1(MPV17):g.16680_18253delinsCCTG
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) rs200938111

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