ClinVar Miner

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

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:
ClinVar version:
Total variants with conflicting interpretations: 74
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HGVS dbSNP
NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.164+1G>C rs397508243
NM_000492.3(CFTR):c.165-3C>T rs200337193
NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) rs193922504
NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.3(CFTR):c.1680-883A>G rs1554388867
NM_000492.3(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.3(CFTR):c.1721C>A (p.Pro574His) rs121908758
NM_000492.3(CFTR):c.1801A>T (p.Ile601Phe) rs397508306
NM_000492.3(CFTR):c.1820_1903del (p.Met607_Gln634del) rs121908777
NM_000492.3(CFTR):c.1826A>G (p.His609Arg) rs397508310
NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter) rs397508327
NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter) rs374946172
NM_000492.3(CFTR):c.274-1G>C rs121908792
NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro) rs397508435
NM_000492.3(CFTR):c.2810dup (p.Val938fs) rs193922510
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2875del (p.Ala959fs) rs397508447
NM_000492.3(CFTR):c.2908+1G>A rs1060503164
NM_000492.3(CFTR):c.2909-15T>G rs397508455
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.296C>T (p.Pro99Leu) rs397508467
NM_000492.3(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.3(CFTR):c.2T>C (p.Met1Thr) rs397508476
NM_000492.3(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter) rs397508528
NM_000492.3(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter) rs397508588
NM_000492.3(CFTR):c.3623del (p.Gly1208fs) rs35396083
NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter) rs121908766
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3717+4A>G rs387906362
NM_000492.3(CFTR):c.4242+1G>A rs372227120
NM_000492.3(CFTR):c.489+2T>C rs397508732
NM_000492.3(CFTR):c.531dup (p.Gly178fs) rs121908771
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.4(CFTR):c.1367T>C rs193922500
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.4(CFTR):c.1517T>C rs397508224
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256
NM_000492.4(CFTR):c.1766+3A>G rs397508298
NM_000492.4(CFTR):c.1766+5G>T rs121908796
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.4(CFTR):c.328G>C (p.Asp110His) rs113993958
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) rs193922525
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532

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