ClinVar Miner

List of variants reported as benign for EAST syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542 0.00339
NM_002241.5(KCNJ10):c.812G>A (p.Arg271His) rs3795339 0.00113
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066

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