ClinVar Miner

List of variants in gene MVK reported as benign by Invitae

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.632-18A>G rs2270375 0.25946
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_000431.4(MVK):c.769-38C>T rs35191208 0.16489
NM_000431.4(MVK):c.371+8C>T rs67886029 0.05513
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00003
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.677+12del rs774948892
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996

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