List of variants in gene combination CFTR, LOC111674477 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.4243-20A>G	rs138025486	0.00086
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.4243-2A>G	rs397508705	0.00001
NM_000492.4(CFTR):c.4252del (p.Glu1418fs)	rs1554397750	0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)	rs397508708	0.00001
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)	rs750559671	0.00001
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)	rs397508707
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del)	rs747078069
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)	rs750559671
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	rs397508709
NM_000492.4(CFTR):c.4329del (p.Ser1444fs)	rs1554397769
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer)	rs1554397772
NM_000492.4(CFTR):c.4364C>A (p.Ser1455Ter)	rs121909043

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