List of variants studied for acetazolamide-responsive myotonia by Athena Diagnostics Inc

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		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly)	rs6504191	0.91477
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp)	rs2058194	0.59717
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=)	rs2070720	0.43390
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)	rs56342400	0.16783
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=)	rs2227906	0.15916
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=)	rs2227907	0.12581
NM_000334.4(SCN4A):c.366C>T (p.Arg122=)	rs41280108	0.04121
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)	rs16947296	0.03818
NM_000334.4(SCN4A):c.2989+5G>A	rs115695396	0.02066
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=)	rs76894284	0.01359
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	rs187401185	0.00343
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)	rs41280110	0.00232
NM_000334.4(SCN4A):c.1100+7G>A	rs200770684	0.00212
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)	rs201148948	0.00134

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