ClinVar Miner

List of variants reported as likely pathogenic for short QT syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln) rs199473368
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) rs864622292
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys) rs2074387117
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln) rs104894581
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys) rs199473381
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr) rs104894583
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro) rs199473384
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His) rs199473385
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325

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