Variants with conflicting interpretations "pathogenic" from CFTR-France and "likely pathogenic" from Counsyl

Minimum review status of the submission from CFTR-France:		Collection method of the submission from CFTR-France:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 47

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)	rs368505753	0.00004
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)	rs149790377	0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)	rs139729994	0.00003
NM_000492.4(CFTR):c.165-3C>T	rs200337193	0.00002
NM_000492.4(CFTR):c.1A>G (p.Met1Val)	rs397508328	0.00002
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)	rs121909017	0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	rs397508256	0.00001
NM_000492.4(CFTR):c.1826A>G (p.His609Arg)	rs397508310	0.00001
NM_000492.4(CFTR):c.2353C>T (p.Arg785Ter)	rs374946172	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.2T>C (p.Met1Thr)	rs397508476	0.00001
NM_000492.4(CFTR):c.595C>T (p.His199Tyr)	rs121908802	0.00001
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)	rs121908803	0.00001
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)	rs397508783	0.00001
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)	rs193922532	0.00001
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)	rs397508137
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)	rs151020603
NM_000492.4(CFTR):c.164+1G>C	rs397508243
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys)	rs80055610
NM_000492.4(CFTR):c.1680-883A>G	rs1554388867
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)	rs397508267
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter)	rs121909025
NM_000492.4(CFTR):c.1990G>T (p.Glu664Ter)	rs397508327
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)	rs121909012
NM_000492.4(CFTR):c.263T>G (p.Leu88Ter)	rs397508412
NM_000492.4(CFTR):c.274-1G>C	rs121908792
NM_000492.4(CFTR):c.2780T>C (p.Leu927Pro)	rs397508435
NM_000492.4(CFTR):c.2875del (p.Ala959fs)	rs397508447
NM_000492.4(CFTR):c.2989-1G>A	rs397508470
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)	rs397508472
NM_000492.4(CFTR):c.3022del (p.Val1008fs)	rs397508482
NM_000492.4(CFTR):c.3254A>G (p.His1085Arg)	rs79635528
NM_000492.4(CFTR):c.327T>A (p.Tyr109Ter)	rs397508528
NM_000492.4(CFTR):c.328G>C (p.Asp110His)	rs113993958
NM_000492.4(CFTR):c.3324del (p.Ile1109fs)	rs1554392282
NM_000492.4(CFTR):c.3617C>G (p.Ser1206Ter)	rs397508588
NM_000492.4(CFTR):c.3717+40A>G	rs397508595
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)	rs193922525
NM_000492.4(CFTR):c.4242+1G>A	rs372227120
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	rs397508709
NM_000492.4(CFTR):c.489+2T>C	rs397508732
NM_000492.4(CFTR):c.53+1G>T	rs397508746
NM_000492.4(CFTR):c.577G>T (p.Glu193Ter)	rs397508759

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