List of variants reported as uncertain significance for tracheal disorder by Fulgent Genetics, Fulgent Genetics

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 103

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000492.4(CFTR):c.*482C>T	rs147862180	0.00163
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)	rs1800073	0.00134
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg)	rs138004955	0.00029
NM_001039.4(SCNN1G):c.1532T>A (p.Leu511Gln)	rs113234492	0.00024
NM_000336.3(SCNN1B):c.903A>G (p.Ile301Met)	rs149667567	0.00021
NM_001038.6(SCNN1A):c.1426C>T (p.Arg476Trp)	rs113622727	0.00020
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)	rs149279509	0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)	rs1800072	0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)	rs145900055	0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys)	rs150691494	0.00019
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln)	rs397508395	0.00013
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)	rs371107552	0.00012
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)	rs143860237	0.00011
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg)	rs142432539	0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)	rs376968326	0.00011
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)	rs149353983	0.00010
NM_001038.6(SCNN1A):c.997C>T (p.Arg333Cys)	rs146177203	0.00010
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val)	rs374403559	0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp)	rs397508814	0.00009
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)	rs143456784	0.00008
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys)	rs397508430	0.00008
NM_000336.3(SCNN1B):c.1894G>A (p.Glu632Lys)	rs140609339	0.00007
NM_000336.3(SCNN1B):c.1322T>C (p.Ile441Thr)	rs770635298	0.00006
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)	rs377731410	0.00006
NM_000492.4(CFTR):c.3517G>A (p.Gly1173Ser)	rs368393738	0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn)	rs146947665	0.00006
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile)	rs772774651	0.00006
NM_000492.4(CFTR):c.489+87A>G	rs969399514	0.00006
NM_000492.4(CFTR):c.842T>C (p.Met281Thr)	rs397508802	0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys)	rs112162204	0.00006
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr)	rs141756749	0.00006
NM_001039.4(SCNN1G):c.470G>A (p.Arg157Gln)	rs181420353	0.00006
NM_001039.4(SCNN1G):c.539G>A (p.Arg180Gln)	rs546893551	0.00006
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)	rs201295415	0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)	rs148604667	0.00005
NM_000336.3(SCNN1B):c.1732G>A (p.Val578Met)	rs745885983	0.00004
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn)	rs13306629	0.00004
NM_000492.4(CFTR):c.2354G>A (p.Arg785Gln)	rs141880790	0.00004
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile)	rs397508397	0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala)	rs200885306	0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)	rs775701644	0.00004
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser)	rs397508185	0.00003
NM_000492.4(CFTR):c.1582G>A (p.Glu528Lys)	rs773018372	0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)	rs145449046	0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)	rs373885282	0.00003
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	rs193922516	0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)	rs377295859	0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile)	rs769931559	0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe)	rs145545286	0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)	rs775713428	0.00003
NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn)	rs886049758	0.00003
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)	rs370586917	0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)	rs749662161	0.00002
NM_000492.4(CFTR):c.3710G>A (p.Gly1237Asp)	rs751474685	0.00002
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser)	rs368427311	0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys)	rs367850319	0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe)	rs193922533	0.00002
NM_001038.6(SCNN1A):c.319G>A (p.Gly107Arg)	rs144763378	0.00002
NM_001038.6(SCNN1A):c.457A>T (p.Ile153Phe)	rs775335440	0.00002
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys)	rs766063304	0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp)	rs754152822	0.00001
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr)	rs397508220	0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu)	rs387906368	0.00001
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr)	rs144745159	0.00001
NM_000492.4(CFTR):c.2113A>G (p.Ile705Val)	rs745538406	0.00001
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val)	rs1472821278	0.00001
NM_000492.4(CFTR):c.2806C>A (p.Pro936Thr)	rs780528577	0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu)	rs1434504483	0.00001
NM_000492.4(CFTR):c.3468+6T>C	rs547442588	0.00001
NM_000492.4(CFTR):c.416A>C (p.His139Pro)	rs76371115	0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)	rs397508699	0.00001
NM_000492.4(CFTR):c.458G>A (p.Arg153Lys)	rs149197463	0.00001
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr)	rs397508725	0.00001
NM_000492.4(CFTR):c.70T>G (p.Leu24Val)	rs1056986309	0.00001
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr)	rs148013312	0.00001
NM_001038.6(SCNN1A):c.777C>G (p.Ile259Met)	rs866913999	0.00001
NM_001039.4(SCNN1G):c.1187A>G (p.His396Arg)	rs202142122	0.00001
NM_000336.3(SCNN1B):c.1228C>T (p.Arg410Cys)	rs200401219
NM_000336.3(SCNN1B):c.530G>A (p.Ser177Asn)	rs748962184
NM_000492.4(CFTR):c.1187A>C (p.Asn396Thr)	rs1396443734
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu)	rs1800097
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu)	rs200204024
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile)	rs1584813846
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg)	rs397508417
NM_000492.4(CFTR):c.2684G>C (p.Ser895Thr)	rs201864483
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu)	rs749784731
NM_000492.4(CFTR):c.2938A>G (p.Ile980Val)	rs1554391473
NM_000492.4(CFTR):c.2976T>A (p.Phe992Leu)	rs758250836
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)	rs397508504
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser)	rs373043500
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile)	rs777445862
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del)	rs397508548
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala)	rs397508550
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln)	rs1800120
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT	rs397515289
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)	rs1793109904
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys)	rs578029902
NM_000492.4(CFTR):c.92G>A (p.Arg31His)	rs149353983
NM_001038.6(SCNN1A):c.-54-13G>A	rs573341191
NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu)	rs72657557
NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr)	rs144653364

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