ClinVar Miner

List of variants in gene MVK reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.79-164T>G rs6606734 0.54070
NM_000431.4(MVK):c.632-18A>G rs2270375 0.25946
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.16987
NM_000431.4(MVK):c.769-38C>T rs35191208 0.16343
NM_000431.4(MVK):c.78+61A>G rs61940512 0.13119
NM_000431.4(MVK):c.885+24G>A rs2270374 0.12332
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.769-7T>G rs104895331 0.00411
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00190
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.441C>T (p.Ala147=) rs138342076 0.00059
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00042
NM_000431.4(MVK):c.371+13T>C rs201201471 0.00031
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000431.4(MVK):c.1128C>T (p.Gly376=) rs147662789 0.00021
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00017
NM_000431.4(MVK):c.789C>G (p.Pro263=) rs146181903 0.00010
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609 0.00007
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.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000431.4(MVK):c.1139A>G (p.His380Arg) rs104895324 0.00005
NM_000431.4(MVK):c.178C>T (p.Arg60Trp) rs202167435 0.00003
NM_000431.4(MVK):c.413C>T (p.Pro138Leu) rs1885211566 0.00003
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559 0.00003
NM_000431.4(MVK):c.151C>T (p.Leu51Phe) rs892779197 0.00001
NM_000431.4(MVK):c.371+9G>A rs551460898 0.00001
NM_000431.4(MVK):c.512G>A (p.Gly171Glu) rs753599820 0.00001
NM_000431.4(MVK):c.519C>T (p.Cys173=) rs554487221 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.855C>T (p.Ala285=) rs550696805 0.00001
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036 0.00001
NM_000431.4(MVK):c.1046A>T (p.Glu349Val)
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) rs373095009
NM_000431.4(MVK):c.450G>C (p.Ser150=) rs201123232
NM_000431.4(MVK):c.677+12del rs774948892
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.853G>A (p.Ala285Thr) rs1180664967
NM_000431.4(MVK):c.973C>G (p.Arg325Gly)

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