ClinVar Miner

List of variants in gene MVK studied for not specified

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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.79-164T>G rs6606734 0.55050
NM_000431.4(MVK):c.226+105C>T rs3752662 0.32384
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.78+61A>G rs61940512 0.13119
NM_000431.4(MVK):c.885+24G>A rs2270374 0.12332
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.381G>A (p.Pro127=) rs140397628 0.00208
NM_000431.4(MVK):c.-15+11G>A rs192335177 0.00207
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
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.-15+16C>T rs758229545 0.00041
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.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_000431.4(MVK):c.789C>G (p.Pro263=) rs146181903 0.00010
NM_000431.4(MVK):c.-29C>T rs534090085 0.00005
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000431.4(MVK):c.78+7_78+10del rs771523264 0.00004
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
NM_000431.4(MVK):c.-14-8C>T rs756448647 0.00002
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357 0.00001
NM_000431.4(MVK):c.371+9G>A rs551460898 0.00001
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221 0.00001
NM_000431.4(MVK):c.624C>T (p.Ser208=) rs879254114 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.1040-5C>T rs150276185
NM_000431.4(MVK):c.227-482T>C
NM_000431.4(MVK):c.227-655T>A
NM_000431.4(MVK):c.227-660T>A
NM_000431.4(MVK):c.605G>A (p.Gly202Glu)
NM_000431.4(MVK):c.677+12del rs774948892
NM_000431.4(MVK):c.733G>T (p.Ala245Ser) rs2136245024
NM_000431.4(MVK):c.943C>G (p.Leu315Val)

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