ClinVar Miner

List of variants in gene MVK studied for Mevalonic aciduria

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.16987
NM_000431.4(MVK):c.371+8C>T rs67886029 0.05513
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_000431.4(MVK):c.*412C>T rs192656516 0.00786
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00411
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000431.4(MVK):c.*90G>A rs142150449 0.00292
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000431.4(MVK):c.-15+11G>A rs192335177 0.00207
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00190
NM_000431.4(MVK):c.*332C>T rs574536495 0.00172
NM_000431.4(MVK):c.*601G>A rs536969522 0.00170
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00149
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00136
NM_000431.4(MVK):c.*660G>A rs142493947 0.00108
NM_000431.4(MVK):c.*75T>G rs138924471 0.00066
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000431.4(MVK):c.*468C>T rs768794506 0.00032
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00031
NM_000431.4(MVK):c.*571G>A rs548094591 0.00028
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000431.4(MVK):c.*358G>A rs575863113 0.00021
NM_000431.4(MVK):c.*431C>T rs72648044 0.00021
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00017
NM_000431.4(MVK):c.-55G>C rs886048929 0.00014
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00010
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00008
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609 0.00007
NM_000431.4(MVK):c.-15G>A rs567278499 0.00006
NM_000431.4(MVK):c.1000G>A (p.Ala334Thr) rs104895317 0.00006
NM_000431.4(MVK):c.527+10G>A rs368909134 0.00006
NM_000431.4(MVK):c.*333G>A rs770255513 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.644G>A (p.Arg215Gln) rs104895303 0.00005
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000431.4(MVK):c.*486C>T rs1359708981 0.00003
NM_000431.4(MVK):c.-33G>A rs886048930 0.00003
NM_000431.4(MVK):c.178C>T (p.Arg60Trp) rs202167435 0.00003
NM_000431.4(MVK):c.790C>T (p.Leu264Phe) rs104895315 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320 0.00002
NM_000431.4(MVK):c.78+8G>A rs766391278 0.00002
NM_000431.4(MVK):c.870G>T (p.Gln290His) rs376025633 0.00002
NM_000431.4(MVK):c.*308G>A rs886048935 0.00001
NM_000431.4(MVK):c.*550G>A rs886048936 0.00001
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) rs104895358 0.00001
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934 0.00001
NM_000431.4(MVK):c.33G>A (p.Pro11=) rs779289416 0.00001
NM_000431.4(MVK):c.380C>T (p.Pro127Leu) rs775474803 0.00001
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031 0.00001
NM_000431.4(MVK):c.527+13C>A rs199670546 0.00001
NM_000431.4(MVK):c.527+8T>C rs377547988 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000431.4(MVK):c.604G>A (p.Gly202Arg) rs104895301 0.00001
NM_000431.4(MVK):c.613A>G (p.Asn205Asp) rs104895364 0.00001
NM_000431.4(MVK):c.709A>T (p.Thr237Ser) rs104895366 0.00001
NM_000431.4(MVK):c.72dup (p.Gly25fs) rs104895322 0.00001
NM_000431.4(MVK):c.768+71C>A rs1198834556 0.00001
NM_000431.4(MVK):c.928G>A (p.Val310Met) rs104895319 0.00001
NM_000431.4(MVK):c.*125G>T rs541159703
NM_000431.4(MVK):c.*566G>C rs1473857064
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.16_34del (p.Leu6fs) rs104895334
NM_000431.4(MVK):c.22G>A (p.Val8Met)
NM_000431.4(MVK):c.302G>A (p.Cys101Tyr) rs886048931
NM_000431.4(MVK):c.37A>C (p.Lys13Gln) rs104895307
NM_000431.4(MVK):c.417dup (p.Gly140fs) rs104895373
NM_000431.4(MVK):c.421del (p.Ala141fs) rs104895323
NM_000431.4(MVK):c.598C>T (p.Pro200Ser) rs886048932
NM_000431.4(MVK):c.71A>G (p.His24Arg) rs144069312
NM_000431.4(MVK):c.768+4A>G rs1295630463
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.788C>G (p.Pro263Arg)
NM_000431.4(MVK):c.902A>C (p.Asn301Thr) rs121917789
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249

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