ClinVar Miner

List of variants in gene KCNJ2 reported as not provided for congenital anomaly of cardiovascular system

Included ClinVar conditions (333):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) rs199473378 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.1051C>T (p.Pro351Ser) rs199473659
NM_000891.3(KCNJ2):c.1265G>T (p.Arg422Leu) rs199473390
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.202T>G (p.Tyr68Asp) rs199473651
NM_000891.3(KCNJ2):c.211G>A (p.Asp71Asn) rs199473369
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val) rs104894575
NM_000891.3(KCNJ2):c.220A>G (p.Thr74Ala) rs199473652
NM_000891.3(KCNJ2):c.223A>G (p.Thr75Ala) rs199473370
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg) rs104894585
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr) rs199473372
NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly) rs199473371
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.271_282del (p.Ala91_Leu94del) rs797044841
NM_000891.3(KCNJ2):c.368T>G (p.Val123Gly) rs199473375
NM_000891.3(KCNJ2):c.407C>T (p.Ser136Phe) rs199473376
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala) rs199473377
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser) rs199473654
NM_000891.3(KCNJ2):c.437G>A (p.Gly146Asp) rs199473379
NM_000891.3(KCNJ2):c.437G>C (p.Gly146Ala) rs199473379
NM_000891.3(KCNJ2):c.461G>T (p.Cys154Phe) rs199473380
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu) rs104894581
NM_000891.3(KCNJ2):c.566G>T (p.Arg189Ile) rs199473381
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala) rs199473382
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile) rs199473655
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp) rs199473383
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His) rs104894583
NM_000891.3(KCNJ2):c.650T>C (p.Leu217Pro) rs199473656
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser) rs1555603968
NM_000891.3(KCNJ2):c.779G>C (p.Arg260Pro) rs199473385
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000891.3(KCNJ2):c.899G>C (p.Gly300Ala) rs104894579
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met) rs104894582
NM_000891.3(KCNJ2):c.907G>A (p.Glu303Lys) rs199473386
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro) rs199473387
NM_000891.3(KCNJ2):c.921G>A (p.Met307Ile) rs199473658
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile) rs199473388
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000891.3(KCNJ2):c.966G>C (p.Trp322Cys) rs797044842

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