ClinVar Miner

List of variants in gene MVK reported as uncertain significance by Invitae

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Total variants: 60
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HGVS dbSNP
NM_000431.4(MVK):c.1005C>T (p.Gly335=) rs104895357
NM_000431.4(MVK):c.1051C>T (p.Pro351Ser) rs773929129
NM_000431.4(MVK):c.1055A>C (p.Glu352Ala)
NM_000431.4(MVK):c.1067C>T (p.Thr356Met) rs104895342
NM_000431.4(MVK):c.1073A>C (p.Gln358Pro)
NM_000431.4(MVK):c.1096G>C (p.Asp366His) rs1566153793
NM_000431.4(MVK):c.1126G>A (p.Gly376Ser)
NM_000431.4(MVK):c.1163G>A (p.Arg388Gln) rs886048934
NM_000431.4(MVK):c.1174G>A (p.Ala392Thr)
NM_000431.4(MVK):c.1175C>T (p.Ala392Val)
NM_000431.4(MVK):c.1189T>C (p.Ter397Arg) rs1555279757
NM_000431.4(MVK):c.119G>A (p.Arg40Gln) rs373095009
NM_000431.4(MVK):c.14T>C (p.Val5Ala) rs141765653
NM_000431.4(MVK):c.166A>G (p.Ile56Val) rs149095003
NM_000431.4(MVK):c.187G>A (p.Asp63Asn)
NM_000431.4(MVK):c.227A>G (p.Glu76Gly) rs1593015412
NM_000431.4(MVK):c.244A>G (p.Thr82Ala)
NM_000431.4(MVK):c.254C>T (p.Ser85Leu)
NM_000431.4(MVK):c.298G>A (p.Asp100Asn)
NM_000431.4(MVK):c.331G>A (p.Ala111Thr) rs371257609
NM_000431.4(MVK):c.349C>G (p.Leu117Val)
NM_000431.4(MVK):c.361C>T (p.Arg121Trp)
NM_000431.4(MVK):c.368A>T (p.Gln123Leu)
NM_000431.4(MVK):c.36G>T (p.Gly12=)
NM_000431.4(MVK):c.371+1GT[4] rs1337419856
NM_000431.4(MVK):c.371+4T>C
NM_000431.4(MVK):c.394G>A (p.Val132Ile) rs104895336
NM_000431.4(MVK):c.449C>T (p.Ser150Leu)
NM_000431.4(MVK):c.484G>A (p.Glu162Lys) rs200457031
NM_000431.4(MVK):c.511G>A (p.Gly171Arg) rs104895337
NM_000431.4(MVK):c.512G>A (p.Gly171Glu)
NM_000431.4(MVK):c.520G>A (p.Val174Ile)
NM_000431.4(MVK):c.524A>G (p.Asn175Ser)
NM_000431.4(MVK):c.565G>T (p.Ala189Ser)
NM_000431.4(MVK):c.592G>A (p.Gly198Arg)
NM_000431.4(MVK):c.595A>T (p.Asn199Tyr) rs1566147301
NM_000431.4(MVK):c.631+3A>G
NM_000431.4(MVK):c.632-3del
NM_000431.4(MVK):c.653A>C (p.Gln218Pro)
NM_000431.4(MVK):c.663T>G (p.Ile221Met) rs757289914
NM_000431.4(MVK):c.678-3C>A
NM_000431.4(MVK):c.681G>A (p.Ser227=)
NM_000431.4(MVK):c.722G>A (p.Arg241His)
NM_000431.4(MVK):c.724A>G (p.Asn242Asp)
NM_000431.4(MVK):c.752G>A (p.Arg251Lys)
NM_000431.4(MVK):c.755A>G (p.Asn252Ser)
NM_000431.4(MVK):c.775G>A (p.Glu259Lys)
NM_000431.4(MVK):c.785C>T (p.Ala262Val) rs763106439
NM_000431.4(MVK):c.799T>C (p.Ser267Pro)
NM_000431.4(MVK):c.802A>G (p.Ile268Val) rs759997079
NM_000431.4(MVK):c.80T>G (p.Val27Gly)
NM_000431.4(MVK):c.863C>T (p.Pro288Leu) rs104895355
NM_000431.4(MVK):c.870G>T (p.Gln290His)
NM_000431.4(MVK):c.874C>T (p.Leu292Phe) rs145586352
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356
NM_000431.4(MVK):c.889C>A (p.Leu297Ile)
NM_000431.4(MVK):c.937G>A (p.Ala313Thr) rs371789705
NM_000431.4(MVK):c.945G>A (p.Leu315=) rs752469036
NM_000431.4(MVK):c.961G>A (p.Val321Met) rs779869991
NM_000431.4(MVK):c.974G>A (p.Arg325His) rs374686559

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