ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000891.2(KCNJ2):c.101A>G (p.Lys34Arg)
NM_000891.2(KCNJ2):c.1045G>A (p.Glu349Lys) rs375330016
NM_000891.2(KCNJ2):c.1067G>T (p.Cys356Phe)
NM_000891.2(KCNJ2):c.1091A>G (p.Lys364Arg) rs1060500054
NM_000891.2(KCNJ2):c.1112C>A (p.Ala371Glu) rs780233256
NM_000891.2(KCNJ2):c.1190G>A (p.Ser397Asn) rs1567823283
NM_000891.2(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485
NM_000891.2(KCNJ2):c.119G>C (p.Arg40Pro) rs766143485
NM_000891.2(KCNJ2):c.1205C>T (p.Thr402Met) rs759070406
NM_000891.2(KCNJ2):c.158A>G (p.His53Arg)
NM_000891.2(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948
NM_000891.2(KCNJ2):c.226T>G (p.Cys76Gly) rs786205812
NM_000891.2(KCNJ2):c.232G>C (p.Asp78His)
NM_000891.2(KCNJ2):c.259A>G (p.Ile87Val)
NM_000891.2(KCNJ2):c.277G>A (p.Val93Ile) rs147750704
NM_000891.2(KCNJ2):c.299G>T (p.Gly100Val)
NM_000891.2(KCNJ2):c.326T>C (p.Leu109Pro) rs1567822991
NM_000891.2(KCNJ2):c.410T>A (p.Ile137Asn) rs772055408
NM_000891.2(KCNJ2):c.416C>T (p.Thr139Ile) rs1060500052
NM_000891.2(KCNJ2):c.52G>A (p.Gly18Ser) rs947488726
NM_000891.2(KCNJ2):c.557C>A (p.Pro186Gln)
NM_000891.2(KCNJ2):c.566G>C (p.Arg189Thr)
NM_000891.2(KCNJ2):c.569A>T (p.Asn190Ile)
NM_000891.2(KCNJ2):c.578T>A (p.Leu193His) rs1555603955
NM_000891.2(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459
NM_000891.2(KCNJ2):c.653G>T (p.Arg218Leu) rs199473384
NM_000891.2(KCNJ2):c.668T>G (p.Val223Gly) rs1555603969
NM_000891.2(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571
NM_000891.2(KCNJ2):c.901A>C (p.Met301Leu) rs786205818
NM_000891.2(KCNJ2):c.901A>G (p.Met301Val) rs786205818
NM_000891.2(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_000891.2(KCNJ2):c.929A>G (p.Gln310Arg)
NM_000891.2(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000891.2(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052
NM_000891.2(KCNJ2):c.973C>T (p.Arg325Cys) rs202067116

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