List of variants in gene SCNN1G reported by Athena Diagnostics Inc

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001039.4(SCNN1G):c.474T>C (p.Ile158=)	rs5735	0.27157
NM_001039.4(SCNN1G):c.387T>C (p.Tyr129=)	rs5734	0.27146
NM_001039.4(SCNN1G):c.1947C>G (p.Leu649=)	rs5723	0.21902
NM_001039.4(SCNN1G):c.1432-7G>A	rs13306653	0.21894
NM_001039.4(SCNN1G):c.549C>T (p.Gly183=)	rs5737	0.06659
NM_001039.4(SCNN1G):c.636C>T (p.Ser212=)	rs5739	0.01794
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)	rs5736	0.01206
NM_001039.4(SCNN1G):c.435C>T (p.Ser145=)	rs62639702	0.00695
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)	rs5738	0.00548
NM_001039.4(SCNN1G):c.1570-9G>A	rs72647540	0.00354
NM_001039.4(SCNN1G):c.1569+10G>A	rs13306659	0.00344
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn)	rs72646501	0.00044
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr)	rs72647543	0.00030
NM_001039.4(SCNN1G):c.1697G>A (p.Trp566Ter)	rs1596779485

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