List of variants in gene SCNN1B reported by CeGaT Center for Human Genetics Tuebingen

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_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)	rs35731153	0.00463
NM_000336.3(SCNN1B):c.777-5T>C	rs61759915	0.00311
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=)	rs61759916	0.00155
NM_000336.3(SCNN1B):c.466C>T (p.Arg156Trp)	rs139310448	0.00132
NM_000336.3(SCNN1B):c.1686A>G (p.Leu562=)	rs541449814	0.00023
NM_000336.3(SCNN1B):c.1221A>G (p.Pro407=)	rs2303156	0.00019
NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr)	rs770635298	0.00006
NM_000336.3(SCNN1B):c.1542+1G>A	rs550424284	0.00002
NM_000336.3(SCNN1B):c.1335G>A (p.Lys445=)
NM_000336.3(SCNN1B):c.1335G>C (p.Lys445Asn)
NM_000336.3(SCNN1B):c.1535C>T (p.Ala512Val)
NM_000336.3(SCNN1B):c.153G>A (p.Met51Ile)
NM_000336.3(SCNN1B):c.278C>G (p.Pro93Arg)	rs1555487525
NM_000336.3(SCNN1B):c.511C>T (p.His171Tyr)
NM_000336.3(SCNN1B):c.833del (p.Gly278fs)	rs1555489114
NM_000336.3(SCNN1B):c.943G>A (p.Gly315Arg)

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