ClinVar Miner

List of variants reported as likely pathogenic for EAST syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002241.5(KCNJ10):c.512G>A (p.Arg171Gln) rs200320916 0.00005
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys) rs387906834
NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg) rs137853072
NM_002241.5(KCNJ10):c.305dup (p.Ala103fs)
NM_002241.5(KCNJ10):c.400C>A (p.Arg134Ser) rs1648622680
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067

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