ClinVar Miner

List of variants in gene MVK reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.78+265A>G rs79362696 0.01533
NM_000431.4(MVK):c.226+180A>G rs60942603 0.01514
NM_000431.4(MVK):c.768+86G>C rs78710155 0.01513
NM_000431.4(MVK):c.371+313_371+314insCC rs72647002 0.00901
NM_000431.4(MVK):c.886-293G>T rs12318538 0.00853
NC_000012.12:g.109573681T>A rs66647925 0.00820
NM_000431.4(MVK):c.886-172T>C rs72648041 0.00701
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000431.4(MVK):c.528-100A>G rs561919722 0.00289
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000431.4(MVK):c.-15+11G>A rs192335177 0.00207
NM_000431.4(MVK):c.-15+16C>T rs758229545 0.00041
NM_000431.4(MVK):c.-14-17T>C rs186232847 0.00029
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000431.4(MVK):c.618T>A (p.Ala206=) rs370745426 0.00024
NM_000431.4(MVK):c.975C>T (p.Arg325=) rs748947620 0.00011
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490 0.00007
NM_000431.4(MVK):c.-29C>T rs534090085 0.00005
NM_000431.4(MVK):c.297C>T (p.Asp99=) rs376323791 0.00004
NM_000431.4(MVK):c.349C>T (p.Leu117=) rs374204972 0.00004
NM_000431.4(MVK):c.78+7_78+10del rs771523264 0.00004
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816 0.00003
NM_000431.4(MVK):c.-14-8C>T rs756448647 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357 0.00001
NM_000431.4(MVK):c.624C>T (p.Ser208=) rs879254114 0.00001
NM_000431.4(MVK):c.528-226C>T rs141842576
NM_000431.4(MVK):c.79-176G>A rs11834517

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