List of variants reported as pathogenic for EAST syndrome by OMIM

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val)	rs137853070	0.00001
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln)	rs397514673	0.00001
NM_002241.5(KCNJ10):c.193C>T (p.Arg65Cys)	rs387906834
NM_002241.5(KCNJ10):c.194G>C (p.Arg65Pro)	rs137853066
NM_002241.5(KCNJ10):c.225T>G (p.Phe75Leu)	rs757159382
NM_002241.5(KCNJ10):c.229G>C (p.Gly77Arg)	rs137853072
NM_002241.5(KCNJ10):c.418T>C (p.Cys140Arg)	rs137853068
NM_002241.5(KCNJ10):c.491C>T (p.Thr164Ile)	rs137853069
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)	rs137853067
NM_002241.5(KCNJ10):c.775del (p.Val258_Val259insTer)	rs1557967748
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	rs137853071

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