ClinVar Miner

List of variants in gene KCNJ10 reported as pathogenic for EAST syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_002241.4(KCNJ10):c.193C>T (p.Arg65Cys) rs387906834
NM_002241.4(KCNJ10):c.194G>C (p.Arg65Pro) rs137853066
NM_002241.4(KCNJ10):c.229G>C (p.Gly77Arg) rs137853072
NM_002241.4(KCNJ10):c.418T>C (p.Cys140Arg) rs137853068
NM_002241.4(KCNJ10):c.491C>T (p.Thr164Ile) rs137853069
NM_002241.4(KCNJ10):c.500C>T (p.Ala167Val) rs137853070
NM_002241.4(KCNJ10):c.524G>A (p.Arg175Gln) rs397514673
NM_002241.4(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067
NM_002241.4(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002241.5(KCNJ10):c.225T>G (p.Phe75Leu)
NM_002241.5(KCNJ10):c.775del (p.Val259Terfs)

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