ClinVar Miner

List of variants in gene KCNJ8 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_004982.4(KCNJ8):c.897G>A (p.Val299=) rs139329310 0.00088
NM_004982.4(KCNJ8):c.507C>T (p.Ile169=) rs139304559 0.00051
NM_004982.4(KCNJ8):c.1036G>A (p.Val346Ile) rs147316959 0.00032
NM_004982.4(KCNJ8):c.138G>T (p.Ala46=) rs568067955 0.00007
NM_004982.4(KCNJ8):c.144G>A (p.Lys48=) rs368274950 0.00007
NM_004982.4(KCNJ8):c.600C>T (p.Ala200=) rs755870233 0.00006
NM_004982.4(KCNJ8):c.870G>A (p.Leu290=) rs549973587 0.00005
NM_004982.4(KCNJ8):c.807C>T (p.His269=) rs745683723 0.00004
NM_004982.4(KCNJ8):c.1266G>A (p.Ser422=) rs772569559 0.00003
NM_004982.4(KCNJ8):c.588T>C (p.His196=) rs373707000 0.00003
NM_004982.4(KCNJ8):c.720G>A (p.Val240=) rs876661349 0.00001
NM_004982.4(KCNJ8):c.1002G>C (p.Val334=)
NM_004982.4(KCNJ8):c.1050T>C (p.Ala350=)
NM_004982.4(KCNJ8):c.1056G>A (p.Arg352=)
NM_004982.4(KCNJ8):c.1065C>A (p.Ala355=)
NM_004982.4(KCNJ8):c.1110A>G (p.Gln370=)
NM_004982.4(KCNJ8):c.1203C>T (p.Asn401=)
NM_004982.4(KCNJ8):c.1212C>T (p.Ser404=)
NM_004982.4(KCNJ8):c.1242T>A (p.Thr414=)
NM_004982.4(KCNJ8):c.1263A>G (p.Thr421=)
NM_004982.4(KCNJ8):c.132C>T (p.Asn44=)
NM_004982.4(KCNJ8):c.141T>C (p.His47=)
NM_004982.4(KCNJ8):c.153T>G (p.Arg51=)
NM_004982.4(KCNJ8):c.210C>T (p.Arg70=)
NM_004982.4(KCNJ8):c.27G>A (p.Pro9=)
NM_004982.4(KCNJ8):c.27G>C (p.Pro9=)
NM_004982.4(KCNJ8):c.27G>T (p.Pro9=)
NM_004982.4(KCNJ8):c.336A>G (p.Lys112=)
NM_004982.4(KCNJ8):c.387T>C (p.Ser129=)
NM_004982.4(KCNJ8):c.39G>T (p.Val13=)
NM_004982.4(KCNJ8):c.471G>A (p.Thr157=) rs143319002
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=) rs143319002
NM_004982.4(KCNJ8):c.591T>A (p.Ala197=) rs145490575
NM_004982.4(KCNJ8):c.594G>T (p.Val198=)
NM_004982.4(KCNJ8):c.63C>T (p.Asn21=)
NM_004982.4(KCNJ8):c.648G>A (p.Arg216=) rs2137047441
NM_004982.4(KCNJ8):c.66G>A (p.Leu22=)
NM_004982.4(KCNJ8):c.66G>T (p.Leu22=)
NM_004982.4(KCNJ8):c.762C>A (p.Ile254=)
NM_004982.4(KCNJ8):c.768C>T (p.Ser256=)
NM_004982.4(KCNJ8):c.846A>C (p.Ala282=)
NM_004982.4(KCNJ8):c.936C>T (p.Ser312=)
NM_004982.4(KCNJ8):c.957A>G (p.Gln319=)
NM_004982.4(KCNJ8):c.966C>T (p.His322=)
NM_004982.4(KCNJ8):c.969C>A (p.Arg323=) rs1311193970
NM_004982.4(KCNJ8):c.984G>A (p.Val328=)

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