ClinVar Miner

List of variants in gene HMCES

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_020187.3(HMCES):c.696C>T (p.Val232=) rs114999931 0.00964
NM_020187.3(HMCES):c.184-7G>A rs149890204 0.00565
NM_020187.3(HMCES):c.428A>G (p.Tyr143Cys) rs142370950 0.00016
NM_020187.3(HMCES):c.64G>A (p.Asp22Asn) rs373499178 0.00005
NM_020187.3(HMCES):c.63G>C (p.Gln21His) rs150741175 0.00003
NM_020187.3(HMCES):c.316C>T (p.Arg106Trp) rs371706577 0.00002
NM_020187.3(HMCES):c.322T>G (p.Phe108Val) rs765721619 0.00002
NM_020187.3(HMCES):c.533G>A (p.Gly178Glu) rs999663830 0.00002
NM_020187.3(HMCES):c.680T>C (p.Leu227Pro) rs758745235 0.00002
NM_020187.3(HMCES):c.988A>G (p.Thr330Ala) rs2071214749 0.00002
NM_020187.3(HMCES):c.1049G>A (p.Arg350His) rs756006412 0.00001
NM_020187.3(HMCES):c.214C>A (p.Pro72Thr) rs375669857 0.00001
NM_020187.3(HMCES):c.389G>A (p.Arg130Gln) rs758136817 0.00001
NM_020187.3(HMCES):c.653A>G (p.Asp218Gly) rs937387488 0.00001
NM_020187.3(HMCES):c.742A>C (p.Thr248Pro) rs1008327342 0.00001
NM_020187.3(HMCES):c.78G>C (p.Gln26His) rs756571053 0.00001
NM_020187.3(HMCES):c.918G>C (p.Lys306Asn) rs1466707410 0.00001
NM_020187.3(HMCES):c.1009T>C (p.Trp337Arg)
NM_020187.3(HMCES):c.146A>G (p.Asn49Ser) rs1397844540
NM_020187.3(HMCES):c.203G>A (p.Arg68His) rs372430315
NM_020187.3(HMCES):c.214C>T (p.Pro72Ser)
NM_020187.3(HMCES):c.220C>T (p.Arg74Cys)
NM_020187.3(HMCES):c.221G>A (p.Arg74His) rs144761816
NM_020187.3(HMCES):c.221G>T (p.Arg74Leu) rs144761816
NM_020187.3(HMCES):c.266A>T (p.Lys89Met)
NM_020187.3(HMCES):c.293G>A (p.Arg98His)
NM_020187.3(HMCES):c.29C>T (p.Pro10Leu) rs1313109323
NM_020187.3(HMCES):c.302C>T (p.Thr101Ile) rs779979711
NM_020187.3(HMCES):c.377A>G (p.Tyr126Cys)
NM_020187.3(HMCES):c.424A>G (p.Ile142Val)
NM_020187.3(HMCES):c.463A>C (p.Ile155Leu) rs139280747
NM_020187.3(HMCES):c.463A>G (p.Ile155Val) rs139280747
NM_020187.3(HMCES):c.479G>A (p.Ser160Asn) rs2530458003
NM_020187.3(HMCES):c.490T>C (p.Trp164Arg)
NM_020187.3(HMCES):c.560A>G (p.Glu187Gly)
NM_020187.3(HMCES):c.596C>T (p.Thr199Ile)
NM_020187.3(HMCES):c.614G>C (p.Gly205Ala)
NM_020187.3(HMCES):c.811G>A (p.Asp271Asn) rs148008790
NM_020187.3(HMCES):c.870G>C (p.Trp290Cys)
NM_020187.3(HMCES):c.889A>G (p.Lys297Glu)
NM_020187.3(HMCES):c.910C>T (p.Pro304Ser)

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