List of variants in gene SCNN1A reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001038.6(SCNN1A):c.1987A>G (p.Thr663Ala)	rs2228576	0.75229
NM_001038.6(SCNN1A):c.1000G>A (p.Ala334Thr)	rs11542844	0.17402
NM_001038.6(SCNN1A):c.1853G>T (p.Cys618Phe)	rs3741913	0.02955
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg)	rs5742912	0.01653
NM_001038.6(SCNN1A):c.978C>T (p.Asn326=)	rs61731141	0.01509
NM_001038.6(SCNN1A):c.99C>T (p.Pro33=)	rs13306619	0.00986
NM_001038.6(SCNN1A):c.-48A>G	rs150809388	0.00712
NM_001038.6(SCNN1A):c.-28T>C	rs61759919	0.00673
NM_001038.6(SCNN1A):c.416+3C>T	rs181894737	0.00145
NM_001038.6(SCNN1A):c.1216C>A (p.Leu406Ile)	rs149484264	0.00029
NM_001038.6(SCNN1A):c.1485G>T (p.Ser495=)	rs3764873	0.00022
NM_001038.6(SCNN1A):c.1554A>G (p.Arg518=)	rs570566104	0.00010
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys)	rs146177203	0.00010
NM_001038.6(SCNN1A):c.-23C>G	rs377074479	0.00005
NM_001038.6(SCNN1A):c.540_541delinsTT (p.Arg181Trp)	rs876657425
NM_001038.6(SCNN1A):c.942del (p.Asn315fs)	rs1555112332

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