ClinVar Miner

List of variants in gene MVK studied for not specified

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Gene type:
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Total variants: 35
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HGVS dbSNP
NM_000431.4(MVK):c.-14-8C>T rs756448647
NM_000431.4(MVK):c.-15+11G>A rs192335177
NM_000431.4(MVK):c.-15+16C>T rs758229545
NM_000431.4(MVK):c.-29C>T rs534090085
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357
NM_000431.4(MVK):c.1040-5C>T rs150276185
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380
NM_000431.4(MVK):c.226+4A>G rs145732290
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.371+8C>T rs67886029
NM_000431.4(MVK):c.371+9G>A rs551460898
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221
NM_000431.4(MVK):c.618T>A (p.Ala206=) rs370745426
NM_000431.4(MVK):c.624C>T (p.Ser208=) rs879254114
NM_000431.4(MVK):c.632-18A>G rs2270375
NM_000431.4(MVK):c.677+12del rs774948892
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816
NM_000431.4(MVK):c.78+61A>G rs61940512
NM_000431.4(MVK):c.78+7_78+10del rs771523264
NM_000431.4(MVK):c.789C>G (p.Pro263=) rs146181903
NM_000431.4(MVK):c.79-164T>G rs6606734
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290
NM_000431.4(MVK):c.885+24G>A rs2270374
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559

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