List of variants in gene combination CFTR, LOC111674477 reported by GeneDx

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.4242+198T>C	rs1429568	0.23544
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)	rs1800136	0.23407
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)	rs1800135	0.00660
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)	rs148783445	0.00074
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	rs4148725	0.00009
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)	rs762847468
NM_000492.4(CFTR):c.4392del (p.Ile1464fs)	rs1793395260
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro)	rs758818611

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