ClinVar Miner

List of variants reported as pathogenic for Andersen-Tawil syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
KCNJ2, 12-BP DEL, NT513
KCNJ2, 6-BP DEL, NT1167
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.557C>T (p.Pro186Leu) rs104894581
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.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

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