ClinVar Miner

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

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Gene type:
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Total variants: 47
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HGVS dbSNP
NM_000431.4(MVK):c.1039+7C>T rs370291700
NM_000431.4(MVK):c.1039+8G>C rs765989100
NM_000431.4(MVK):c.1040-10C>T
NM_000431.4(MVK):c.1040-4G>A
NM_000431.4(MVK):c.1040-5C>T rs150276185
NM_000431.4(MVK):c.1059G>A (p.Val353=)
NM_000431.4(MVK):c.1116C>T (p.Ile372=)
NM_000431.4(MVK):c.1128C>T (p.Gly376=)
NM_000431.4(MVK):c.144A>G (p.Lys48=)
NM_000431.4(MVK):c.19C>T (p.Leu7=)
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.294T>C (p.Pro98=) rs1566143735
NM_000431.4(MVK):c.297C>T (p.Asp99=) rs376323791
NM_000431.4(MVK):c.327G>A (p.Val109=) rs1593015594
NM_000431.4(MVK):c.349C>T (p.Leu117=) rs374204972
NM_000431.4(MVK):c.371+9G>A rs551460898
NM_000431.4(MVK):c.372-9G>A
NM_000431.4(MVK):c.393C>T (p.Ile131=)
NM_000431.4(MVK):c.420G>A (p.Gly140=)
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076
NM_000431.4(MVK):c.450G>C (p.Ser150=)
NM_000431.4(MVK):c.504G>A (p.Leu168=) rs767075641
NM_000431.4(MVK):c.527+10G>A rs368909134
NM_000431.4(MVK):c.527+8T>C rs377547988
NM_000431.4(MVK):c.527+9G>A rs1593017698
NM_000431.4(MVK):c.534C>G (p.Thr178=)
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329
NM_000431.4(MVK):c.60T>C (p.His20=)
NM_000431.4(MVK):c.618T>A (p.Ala206=) rs370745426
NM_000431.4(MVK):c.677+7del
NM_000431.4(MVK):c.678-8C>A rs1451676951
NM_000431.4(MVK):c.700C>T (p.Leu234=) rs199909816
NM_000431.4(MVK):c.729C>G (p.Thr243=)
NM_000431.4(MVK):c.747C>A (p.Gly249=)
NM_000431.4(MVK):c.747C>T (p.Gly249=)
NM_000431.4(MVK):c.78+7_78+10del rs771523264
NM_000431.4(MVK):c.780C>T (p.Ile260=)
NM_000431.4(MVK):c.789C>A (p.Pro263=)
NM_000431.4(MVK):c.789C>G (p.Pro263=) rs146181903
NM_000431.4(MVK):c.837G>A (p.Leu279=) rs374187676
NM_000431.4(MVK):c.855C>T (p.Ala285=)
NM_000431.4(MVK):c.864G>A (p.Pro288=) rs149708247
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290
NM_000431.4(MVK):c.921C>T (p.Ala307=)
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.975C>T (p.Arg325=) rs748947620

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