ClinVar Miner

List of variants in gene MVK studied for Mevalonic aciduria

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
Download table as spreadsheet
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.