List of variants in gene combination CFTR, LOC111674477 studied for Hereditary pancreatitis

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
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.4243-5C>T	rs114402068	0.00138
NM_000492.4(CFTR):c.4243-20A>G	rs138025486	0.00086
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.4243-35del	rs193922527
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)	rs397508706

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