List of variants in gene SCNN1G reported as uncertain significance by GeneDx

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001039.4(SCNN1G):c.1589A>G (p.Asn530Ser)	rs148985177	0.00066
NM_001039.4(SCNN1G):c.1779_1781dup (p.Pro594_Ala595insPro)	rs770495447	0.00033
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln)	rs113234492	0.00023
NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln)	rs181420353	0.00007
NM_001039.4(SCNN1G):c.1891C>T (p.Arg631Cys)	rs150854967	0.00003
NM_001039.4(SCNN1G):c.1720G>C (p.Ala574Pro)	rs1401066895	0.00001
NM_001039.4(SCNN1G):c.538C>T (p.Arg180Trp)	rs763601481	0.00001
NM_001039.4(SCNN1G):c.1078-17TGC[3]	rs72647517
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)	rs144653364
NM_001039.4(SCNN1G):c.158G>A (p.Arg53His)
NM_001039.4(SCNN1G):c.1720G>A (p.Ala574Thr)
NM_001039.4(SCNN1G):c.1874C>G (p.Pro625Arg)	rs1960144557

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