ClinVar Miner

List of variants in gene KCNQ1 reported as benign for short QT syndrome type 2

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.37559
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02390
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01114
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_000218.3(KCNQ1):c.*464G>A rs141960532 0.00438
NM_000218.3(KCNQ1):c.*731G>A rs146324627 0.00335
NM_000218.3(KCNQ1):c.*837G>A rs139633955 0.00155
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00133
NM_000218.3(KCNQ1):c.*904T>C rs186055804 0.00125
NM_000218.3(KCNQ1):c.*1025G>C rs181226788 0.00091
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000218.3(KCNQ1):c.*391G>A rs774059974 0.00040
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610 0.00029
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000218.3(KCNQ1):c.387-7C>T rs201682200 0.00008
NM_000218.3(KCNQ1):c.780+12G>A rs200796314 0.00005
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00003
NM_000218.3(KCNQ1):c.*806C>T rs539398869 0.00001
NM_000218.3(KCNQ1):c.*81C>T rs771815387 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000218.3(KCNQ1):c.*632C>T rs568824453
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907

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