ClinVar Miner

List of variants reported as uncertain significance for short QT syndrome by New York Genome Center

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00028
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) rs368817970 0.00001
NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu) rs762510312 0.00001
NM_000238.4(KCNH2):c.3373C>G (p.Pro1125Ala) rs1159352279 0.00001
NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) rs1410404016
NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg)
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys) rs199473434
NM_005070.4(SLC4A3):c.1456A>G (p.Lys486Glu)

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