ClinVar Miner

List of variants in gene MVK reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000431.4(MVK):c.*125G>T
NM_000431.4(MVK):c.*308G>A rs886048935
NM_000431.4(MVK):c.*332C>T rs574536495
NM_000431.4(MVK):c.*333G>A
NM_000431.4(MVK):c.*358G>A
NM_000431.4(MVK):c.*431C>T rs72648044
NM_000431.4(MVK):c.*468C>T rs768794506
NM_000431.4(MVK):c.*486C>T
NM_000431.4(MVK):c.*550G>A rs886048936
NM_000431.4(MVK):c.*566G>C
NM_000431.4(MVK):c.*571G>A
NM_000431.4(MVK):c.*601G>A rs536969522
NM_000431.4(MVK):c.*75T>G rs138924471
NM_000431.4(MVK):c.-15G>A rs567278499
NM_000431.4(MVK):c.-33G>A rs886048930
NM_000431.4(MVK):c.-55G>C rs886048929
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653
NM_000431.4(MVK):c.178C>T (p.Arg60Trp)
NM_000431.4(MVK):c.258G>A (p.Glu86=)
NM_000431.4(MVK):c.277_283del (p.Glu93fs) rs104895369
NM_000431.4(MVK):c.302G>A (p.Cys101Tyr) rs886048931
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609
NM_000431.4(MVK):c.33G>A (p.Pro11=)
NM_000431.4(MVK):c.371+13T>C rs201201471
NM_000431.4(MVK):c.37A>C (p.Lys13Gln)
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031
NM_000431.4(MVK):c.527+10G>A rs368909134
NM_000431.4(MVK):c.527+13C>A rs199670546
NM_000431.4(MVK):c.527+8T>C rs377547988
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329
NM_000431.4(MVK):c.598C>T (p.Pro200Ser) rs886048932
NM_000431.4(MVK):c.78+8G>A rs766391278
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379
NM_000431.4(MVK):c.870G>T (p.Gln290His)
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290
NM_000431.4(MVK):c.904C>T (p.Gln302Ter) rs886048933
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042

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