List of variants reported as pathogenic for long QT syndrome 1 by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

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Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)	rs17215500	0.00003
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)	rs397508072	0.00001
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)	rs199473410	0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)	rs199472795	0.00001
NM_000218.3(KCNQ1):c.477+1G>A	rs762814879	0.00001
NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)	rs199472759
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)	rs12720459
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	rs199473411
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)	rs397508077
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)	rs397508083
NM_000218.3(KCNQ1):c.1325del (p.His442fs)	rs1135401944
NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs)	rs1846542419
NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs)	rs1554920580
NM_000218.3(KCNQ1):c.1685+1G>A	rs794728531
NM_000218.3(KCNQ1):c.1685+2T>C	rs1590081467
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)	rs199472814
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg)	rs1325525794
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs)	rs763462603
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)	rs120074178
NM_000218.3(KCNQ1):c.604+2T>C	rs1848322089
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	rs199473456
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro)	rs794728512
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro)	rs199472716
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)	rs199472719
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)	rs1564821090
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del)	rs397508126
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)	rs397508127
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)	rs120074186
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)	rs120074184
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)	rs199472754
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)	rs199472756

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