List of variants in gene KCNQ1 reported as pathogenic by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)	rs120074178	0.00002
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)	rs1800171	0.00001
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp)	rs199472793	0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)	rs179489	0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)	rs199473394	0.00001
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)	rs779383393
NM_000218.3(KCNQ1):c.1686-2A>G	rs878854350
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala)	rs199472806
NM_000218.3(KCNQ1):c.1733-1G>C	rs878854348
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)	rs794728536
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)	rs878854347
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs)	rs763462603
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)	rs794728568
NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys)	rs794728513
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del)	rs397508126
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)	rs397508127

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