ClinVar Miner

List of variants reported as likely benign for EAST syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_002241.5(KCNJ10):c.*1839C>T rs138511291
NM_002241.5(KCNJ10):c.*2490G>A rs190897143
NM_002241.5(KCNJ10):c.*2596A>G rs116418256
NM_002241.5(KCNJ10):c.*266T>A
NM_002241.5(KCNJ10):c.1092A>G (p.Gln364=) rs145588542
NM_002241.5(KCNJ10):c.1137C>G (p.Val379=) rs372774976
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959
NM_002241.5(KCNJ10):c.225T>C (p.Phe75=) rs757159382
NM_002241.5(KCNJ10):c.240C>T (p.Phe80=) rs774758209
NM_002241.5(KCNJ10):c.273G>A (p.Val91=) rs745340219
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) rs139069413
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296
NM_002241.5(KCNJ10):c.927C>T (p.Tyr309=) rs775091787

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