List of variants in gene combination CFTR, LOC111674475 reported by Counsyl

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_000492.4(CFTR):c.1666A>G (p.Ile556Val)	rs75789129	0.00119
NM_000492.4(CFTR):c.1679+16T>C	rs397508262	0.00013
NM_000492.4(CFTR):c.1679+18G>A	rs369294289	0.00006
NM_000492.4(CFTR):c.1585-19T>C	rs778457306	0.00003
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser)	rs762224063	0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln)	rs121909044	0.00003
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser)	rs193922504	0.00001
NM_000492.4(CFTR):c.1585-8G>A	rs193922503
NM_000492.4(CFTR):c.1585-9T>C	rs397508234
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn)	rs397508235
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val)	rs1387755887
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)	rs121908757
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)	rs121909013
NM_000492.4(CFTR):c.1679+116G>T	rs207468451
NM_000492.4(CFTR):c.1679+1G>A	rs397508263
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)	rs80055610

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