ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_000891.2(KCNJ2):c.1102del (p.Leu368fs) rs1567823248
NM_000891.2(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.2(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
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.431G>A (p.Gly144Asp) rs199473377
NM_000891.2(KCNJ2):c.644G>A (p.Gly215Asp) rs199473383
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

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