ClinVar Miner

List of variants in gene MVK reported as likely benign for not provided

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Gene type:
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Total variants: 39
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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.769-7T>G rs104895331 0.00354
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.381G>A (p.Pro127=) rs140397628 0.00208
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00034
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.1128C>T (p.Gly376=) rs147662789 0.00023
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.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.855C>T (p.Ala285=) rs550696805 0.00006
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.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.837G>A (p.Leu279=) rs374187676 0.00002
NM_000431.4(MVK):c.927C>T (p.Gly309=) rs762580578 0.00002
NM_000431.4(MVK):c.18A>G (p.Leu6=) rs1474470230 0.00001
NM_000431.4(MVK):c.216A>G (p.Thr72=) rs758432894 0.00001
NM_000431.4(MVK):c.1074G>A (p.Gln358=) rs1566153756
NM_000431.4(MVK):c.312C>T (p.Thr104=)
NM_000431.4(MVK):c.327G>A (p.Val109=) rs1593015594
NM_000431.4(MVK):c.450G>C (p.Ser150=) rs201123232
NM_000431.4(MVK):c.528-226C>T rs141842576
NM_000431.4(MVK):c.774A>C (p.Pro258=)
NM_000431.4(MVK):c.79-176G>A rs11834517

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