ClinVar Miner

List of variants in gene MVK reported by Fulgent Genetics, Fulgent Genetics

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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.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_000431.4(MVK):c.-15+16C>T rs758229545 0.00041
NM_000431.4(MVK):c.371+20A>G rs142078694 0.00036
NM_000431.4(MVK):c.-14-17T>C rs186232847 0.00029
NM_000431.4(MVK):c.680C>T (p.Ser227Leu) rs201360189 0.00022
NM_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914 0.00018
NM_000431.4(MVK):c.317G>A (p.Arg106His) rs778337320 0.00013
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439 0.00011
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) rs371789705 0.00011
NM_000431.4(MVK):c.361C>T (p.Arg121Trp) rs368026034 0.00009
NM_000431.4(MVK):c.942T>A (p.Ser314=) rs201216490 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.889C>A (p.Leu297Ile) rs1047311477 0.00006
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129 0.00005
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336 0.00005
NM_000431.4(MVK):c.722G>A (p.Arg241His) rs372166675 0.00004
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355 0.00004
NM_000431.4(MVK):c.362G>A (p.Arg121Gln) rs371511147 0.00003
NM_000431.4(MVK):c.857C>T (p.Pro286Leu) rs104895379 0.00003
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337 0.00002
NM_000431.4(MVK):c.830G>A (p.Arg277His) rs104895352 0.00002
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000431.4(MVK):c.1134C>T (p.Ser378=) rs1885921145 0.00001
NM_000431.4(MVK):c.1162C>T (p.Arg388Ter) rs104895360 0.00001
NM_000431.4(MVK):c.188A>T (p.Asp63Val) rs1165875328 0.00001
NM_000431.4(MVK):c.423G>A (p.Ala141=) rs756068705 0.00001
NM_000431.4(MVK):c.483C>T (p.Cys161=) rs777886684 0.00001
NM_000431.4(MVK):c.564G>A (p.Trp188Ter) rs104895311 0.00001
NM_000431.4(MVK):c.565G>T (p.Ala189Ser) rs1403009347 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.755A>G (p.Asn252Ser) rs112324119 0.00001
NM_000431.4(MVK):c.1059G>A (p.Val353=) rs2136257119
NM_000431.4(MVK):c.119G>T (p.Arg40Leu) rs373095009
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.677+12G>A rs539146613
NM_000431.4(MVK):c.718C>T (p.Pro240Ser) rs758952837
NM_000431.4(MVK):c.719C>G (p.Pro240Arg) rs1458254066
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000431.4(MVK):c.832G>A (p.Val278Met) rs574045811
NM_000431.4(MVK):c.943_944del (p.Leu315fs) rs776735249

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