List of variants in gene KCNJ10 reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys)	rs137853074	0.00008
NM_002241.5(KCNJ10):c.512G>A (p.Arg171Gln)	rs200320916	0.00005
NM_002241.5(KCNJ10):c.115G>A (p.Val39Met)	rs1274663711	0.00001
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr)	rs759993423	0.00001
NM_002241.5(KCNJ10):c.221C>T (p.Thr74Ile)	rs796052604	0.00001
NM_002241.5(KCNJ10):c.524G>A (p.Arg175Gln)	rs397514673	0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)	rs138943405	0.00001
NM_002241.5(KCNJ10):c.-1+1G>T	rs796052606
NM_002241.5(KCNJ10):c.170C>T (p.Thr57Ile)
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.487G>T (p.Gly163Cys)
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter)	rs137853067
NM_002241.5(KCNJ10):c.626T>C (p.Ile209Thr)	rs1404425302
NM_002241.5(KCNJ10):c.755C>G (p.Pro252Arg)	rs1571265375
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	rs137853071

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