List of variants reported as likely pathogenic for autosomal recessive disease by Ambry Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 85

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)	rs140455771	0.00041
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp)	rs121908759	0.00039
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)	rs147422190	0.00034
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)	rs139468767	0.00016
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)	rs397508137	0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)	rs191456345	0.00011
NM_000492.4(CFTR):c.2657+2_2657+3insA	rs397508414	0.00009
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)	rs397508272	0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile)	rs151048781	0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)	rs141482808	0.00006
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val)	rs397508553	0.00005
NM_000492.4(CFTR):c.3874-4522A>G	rs895394181	0.00004
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)	rs73215912	0.00003
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)	rs193922501	0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)	rs397508463	0.00003
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)	rs368516826	0.00002
NM_000492.4(CFTR):c.165-3C>T	rs200337193	0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)	rs144055758	0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu)	rs397508537	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.490-1G>A	rs397508734	0.00002
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	rs397508224	0.00001
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro)	rs1791967656	0.00001
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)	rs397508256	0.00001
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn)	rs369521395	0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser)	rs397508488	0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn)	rs397508498	0.00001
NM_000492.4(CFTR):c.3139_3139+1del	rs397508505	0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)	rs397508609	0.00001
NM_000492.4(CFTR):c.869+5G>A	rs533959068	0.00001
NM_000492.4(CFTR):c.870-2A>G	rs1290078234	0.00001
NM_000492.3(CFTR):c.2909_2924dup
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)	rs397508141
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile)	rs1800086
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)	rs76879328
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys)	rs75053309
NM_000492.4(CFTR):c.1209+1G>T	rs397508176
NM_000492.4(CFTR):c.1210-2_1210-1del	rs1562894926
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)	rs74551128
NM_000492.4(CFTR):c.1367T>C (p.Val456Ala)	rs193922500
NM_000492.4(CFTR):c.1392+1G>A	rs397508197
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)	rs121908805
NM_000492.4(CFTR):c.1420G>A (p.Glu474Lys)	rs756206533
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly)	rs397508225
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly)	rs397508226
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)	rs1554384440
NM_000492.4(CFTR):c.1585-2A>G	rs397508233
NM_000492.4(CFTR):c.1585-2A>T	rs397508233
NM_000492.4(CFTR):c.164+1G>T	rs397508243
NM_000492.4(CFTR):c.164+2T>A	rs121908800
NM_000492.4(CFTR):c.1766+2T>A	rs1554389062
NM_000492.4(CFTR):c.1860T>G (p.His620Gln)	rs397508315
NM_000492.4(CFTR):c.2620-2A>G	rs1554390859
NM_000492.4(CFTR):c.273+3A>C	rs74467662
NM_000492.4(CFTR):c.2856G>A (p.Met952Ile)	rs151048781
NM_000492.4(CFTR):c.2908+1G>A	rs1060503164
NM_000492.4(CFTR):c.2936A>T (p.Asp979Val)	rs397508462
NM_000492.4(CFTR):c.3000_3014del (p.Val1001_Ile1005del)
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg)	rs397508490
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg)	rs756219310
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)	rs397508498
NM_000492.4(CFTR):c.3140-1G>A	rs397508506
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
NM_000492.4(CFTR):c.3367+1G>A	rs1470125842
NM_000492.4(CFTR):c.346G>A (p.Glu116Lys)	rs397508571
NM_000492.4(CFTR):c.350G>C (p.Arg117Pro)	rs78655421
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg)	rs397508601
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)	rs77010898
NM_000492.4(CFTR):c.3963+1G>C	rs672601314
NM_000492.4(CFTR):c.3963+1G>T
NM_000492.4(CFTR):c.416A>T (p.His139Leu)	rs76371115
NM_000492.4(CFTR):c.4242+2T>C	rs193922526
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer)	rs1554397772
NM_000492.4(CFTR):c.490-1G>C
NM_000492.4(CFTR):c.494T>C (p.Leu165Ser)	rs397508736
NM_000492.4(CFTR):c.53+2T>C
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys)	rs397508755
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)	rs376008630
NM_000492.4(CFTR):c.79G>A (p.Gly27Arg)	rs397508796
NM_000492.4(CFTR):c.869+1G>C	rs1330431481
NM_000492.4(CFTR):c.869+3A>T	rs1554380828
NM_000492.4(CFTR):c.870-1113_870-1110del	rs397508809

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