ClinVar Miner

List of variants in gene KCNJ2 reported as pathogenic for Andersen-Tawil syndrome

Included ClinVar conditions (3):
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Gene type:
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Total variants: 28
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HGVS dbSNP
KCNJ2, 12-BP DEL, NT513
KCNJ2, 6-BP DEL, NT1167
NM_000891.2(KCNJ2):c.1102del (p.Leu368fs) rs1567823248
NM_000891.2(KCNJ2):c.1177G>T (p.Gly393Ter)
NM_000891.2(KCNJ2):c.161G>T (p.Cys54Phe) rs199473650
NM_000891.2(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.2(KCNJ2):c.212A>T (p.Asp71Val) rs104894575
NM_000891.2(KCNJ2):c.224C>G (p.Thr75Arg) rs104894585
NM_000891.2(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
NM_000891.2(KCNJ2):c.233A>G (p.Asp78Gly) rs199473371
NM_000891.2(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.2(KCNJ2):c.271_282del (p.Ala91_Leu94del) rs797044841
NM_000891.2(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_000891.2(KCNJ2):c.557C>T (p.Pro186Leu) rs104894581
NM_000891.2(KCNJ2):c.644G>A (p.Gly215Asp) rs199473383
NM_000891.2(KCNJ2):c.646A>C (p.Asn216His) rs104894583
NM_000891.2(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.2(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.2(KCNJ2):c.682C>T (p.Arg228Ter) rs1060500053
NM_000891.2(KCNJ2):c.715G>T (p.Glu239Ter) rs1555603974
NM_000891.2(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000891.2(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000891.2(KCNJ2):c.904G>A (p.Val302Met) rs104894582
NM_000891.2(KCNJ2):c.913A>C (p.Thr305Pro) rs199473387
NM_000891.2(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052
NM_000891.2(KCNJ2):c.966G>C (p.Trp322Cys) rs797044842

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