ClinVar Miner

List of variants in gene IZUMO2 studied for not specified

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_152358.3(IZUMO2):c.425A>C (p.Lys142Thr) rs185066504 0.00066
NM_152358.3(IZUMO2):c.499G>A (p.Asp167Asn) rs200272430 0.00037
NM_152358.3(IZUMO2):c.616G>A (p.Val206Met) rs189762069 0.00017
NM_152358.3(IZUMO2):c.410T>G (p.Leu137Arg) rs200673846 0.00009
NM_152358.3(IZUMO2):c.421C>G (p.Leu141Val) rs199869998 0.00007
NM_152358.3(IZUMO2):c.398G>T (p.Cys133Phe) rs141774263 0.00003
NM_152358.3(IZUMO2):c.503G>A (p.Arg168Gln) rs773772714 0.00003
NM_152358.3(IZUMO2):c.548C>T (p.Pro183Leu) rs199749467 0.00003
NM_152358.3(IZUMO2):c.68A>G (p.Gln23Arg) rs773566164 0.00003
NM_152358.3(IZUMO2):c.314C>T (p.Pro105Leu) rs1428846089 0.00002
NM_152358.3(IZUMO2):c.77C>T (p.Pro26Leu) rs376775034 0.00002
NM_152358.3(IZUMO2):c.184G>A (p.Gly62Arg) rs761074243 0.00001
NM_152358.3(IZUMO2):c.217T>A (p.Phe73Ile) rs199600819 0.00001
NM_152358.3(IZUMO2):c.268A>G (p.Lys90Glu) rs771786774 0.00001
NM_152358.3(IZUMO2):c.514G>A (p.Val172Met) rs769577541 0.00001
NM_152358.3(IZUMO2):c.608T>C (p.Val203Ala) rs974027122 0.00001
NM_152358.3(IZUMO2):c.213C>A (p.Asn71Lys) rs2514233788
NM_152358.3(IZUMO2):c.220G>A (p.Val74Met)
NM_152358.3(IZUMO2):c.302T>C (p.Leu101Pro)
NM_152358.3(IZUMO2):c.406A>G (p.Lys136Glu)
NM_152358.3(IZUMO2):c.448C>G (p.His150Asp) rs748978427
NM_152358.3(IZUMO2):c.457A>G (p.Arg153Gly)
NM_152358.3(IZUMO2):c.512G>A (p.Arg171His)
NM_152358.3(IZUMO2):c.556C>G (p.Gln186Glu) rs2030155033
NM_152358.3(IZUMO2):c.574C>T (p.Leu192Phe)
NM_152358.3(IZUMO2):c.583G>T (p.Val195Leu)

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