List of variants in gene MVK studied for Mevalonic aciduria

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 63

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HGVS	dbSNP
NM_000431.3(MVK):c.417dupC (p.Gly140Argfs)	rs104895373
NM_000431.3(MVK):c.72dupT (p.Gly25Trpfs)	rs104895322
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.*412C>T	rs192656516
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.*58dup	rs397714540
NM_000431.4(MVK):c.*601G>A	rs536969522
NM_000431.4(MVK):c.*660G>A	rs142493947
NM_000431.4(MVK):c.*75T>G	rs138924471
NM_000431.4(MVK):c.*90G>A
NM_000431.4(MVK):c.-15+11G>A	rs192335177
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.1000G>A (p.Ala334Thr)	rs104895317
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.16_34del (p.Leu6fs)	rs104895334
NM_000431.4(MVK):c.178C>T (p.Arg60Trp)
NM_000431.4(MVK):c.226+4A>G	rs145732290
NM_000431.4(MVK):c.238G>A (p.Val80Ile)	rs76914224
NM_000431.4(MVK):c.258G>A (p.Glu86=)
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.371+8C>T	rs67886029
NM_000431.4(MVK):c.37A>C (p.Lys13Gln)
NM_000431.4(MVK):c.380C>T (p.Pro127Leu)	rs775474803
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.484G>A (p.Glu162Lys)	rs200457031
NM_000431.4(MVK):c.510C>T (p.Asp170=)	rs2287218
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.59A>C (p.His20Pro)	rs104895295
NM_000431.4(MVK):c.604G>A (p.Gly202Arg)	rs104895301
NM_000431.4(MVK):c.768+4A>G	rs1295630463
NM_000431.4(MVK):c.769-7T>G	rs104895331
NM_000431.4(MVK):c.78+8G>A	rs766391278
NM_000431.4(MVK):c.780C>A (p.Ile260=)	rs34975996
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.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.902A>C (p.Asn301Thr)	rs121917789
NM_000431.4(MVK):c.924C>T (p.Leu308=)	rs72648042
NM_000431.4(MVK):c.928G>A (p.Val310Met)	rs104895319

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