List of variants in gene combination CFTR, LOC111674477 reported by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 95

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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.4333G>A (p.Asp1445Asn)	rs148783445	0.00074
NM_000492.4(CFTR):c.*2G>A	rs150914702	0.00056
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	rs4148725	0.00009
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)	rs761669740	0.00006
NM_000492.4(CFTR):c.4340T>A (p.Val1447Glu)	rs1397796355	0.00003
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu)	rs578237673	0.00002
NM_000492.4(CFTR):c.4363T>G (p.Ser1455Ala)	rs748845320	0.00002
NM_000492.4(CFTR):c.4396G>T (p.Ala1466Ser)	rs199827645	0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)	rs374705585	0.00002
NM_000492.4(CFTR):c.4243-2A>G	rs397508705	0.00001
NM_000492.4(CFTR):c.4265G>A (p.Arg1422Gln)	rs780785939	0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro)	rs397508708	0.00001
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe)	rs762847468	0.00001
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys)	rs750559671	0.00001
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln)	rs975983947	0.00001
NM_000492.4(CFTR):c.4320C>T (p.Ala1440=)	rs1292837576	0.00001
NM_000492.4(CFTR):c.4322T>C (p.Ile1441Thr)	rs766659587	0.00001
NM_000492.4(CFTR):c.4336A>C (p.Arg1446=)	rs985995406	0.00001
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)	rs983279303	0.00001
NM_000492.4(CFTR):c.4383G>T (p.Lys1461Asn)	rs1562929623	0.00001
NM_000492.4(CFTR):c.4427A>G (p.Gln1476Arg)	rs1793396213	0.00001
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys)	rs1325117166	0.00001
NM_000492.4(CFTR):c.4243-11C>T
NM_000492.4(CFTR):c.4243-15C>A
NM_000492.4(CFTR):c.4243-15C>T
NM_000492.4(CFTR):c.4243-16A>G	rs780125251
NM_000492.4(CFTR):c.4243-19C>G	rs2116226004
NM_000492.4(CFTR):c.4243-21_4243-18del
NM_000492.4(CFTR):c.4243-35del	rs193922527
NM_000492.4(CFTR):c.4243-4C>G
NM_000492.4(CFTR):c.4243-7T>C	rs2116226050
NM_000492.4(CFTR):c.4243-7del	rs878854021
NM_000492.4(CFTR):c.4243-8T>C	rs2116226043
NM_000492.4(CFTR):c.4244T>G (p.Val1415Gly)	rs779591474
NM_000492.4(CFTR):c.4245C>T (p.Val1415=)
NM_000492.4(CFTR):c.4248A>T (p.Ile1416=)
NM_000492.4(CFTR):c.4251A>C (p.Glu1417Asp)	rs1793384834
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)	rs397508706
NM_000492.4(CFTR):c.4252G>T (p.Glu1418Ter)	rs397508707
NM_000492.4(CFTR):c.4256A>T (p.Asn1419Ile)	rs1461912555
NM_000492.4(CFTR):c.4263G>A (p.Val1421=)	rs1793385225
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp)	rs373172017
NM_000492.4(CFTR):c.4266G>A (p.Arg1422=)
NM_000492.4(CFTR):c.4266G>T (p.Arg1422=)	rs545385510
NM_000492.4(CFTR):c.4269G>A (p.Gln1423=)	rs2116226188
NM_000492.4(CFTR):c.4272C>A (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)	rs1800135
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)	rs762847468
NM_000492.4(CFTR):c.4288C>T (p.Leu1430=)
NM_000492.4(CFTR):c.4291C>T (p.Leu1431=)	rs774296351
NM_000492.4(CFTR):c.4292T>G (p.Leu1431Arg)
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys)	rs761669740
NM_000492.4(CFTR):c.4297G>T (p.Glu1433Ter)	rs750559671
NM_000492.4(CFTR):c.4298A>G (p.Glu1433Gly)
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)	rs397508709
NM_000492.4(CFTR):c.4304G>A (p.Ser1435Asn)
NM_000492.4(CFTR):c.4305C>G (p.Ser1435Arg)
NM_000492.4(CFTR):c.4315C>T (p.Gln1439Ter)
NM_000492.4(CFTR):c.4325G>C (p.Ser1442Thr)
NM_000492.4(CFTR):c.4325del (p.Ser1442fs)
NM_000492.4(CFTR):c.4326C>T (p.Ser1442=)	rs753963572
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser)	rs1336644939
NM_000492.4(CFTR):c.4328C>G (p.Pro1443Arg)
NM_000492.4(CFTR):c.4329C>G (p.Pro1443=)
NM_000492.4(CFTR):c.4329C>T (p.Pro1443=)
NM_000492.4(CFTR):c.4329del (p.Ser1444fs)	rs1554397769
NM_000492.4(CFTR):c.4332C>T (p.Ser1444=)	rs779359608
NM_000492.4(CFTR):c.4335C>T (p.Asp1445=)
NM_000492.4(CFTR):c.4336A>G (p.Arg1446Gly)	rs985995406
NM_000492.4(CFTR):c.4338G>A (p.Arg1446=)
NM_000492.4(CFTR):c.4340del (p.Val1447fs)	rs2116226496
NM_000492.4(CFTR):c.4347C>G (p.Leu1449=)
NM_000492.4(CFTR):c.4347C>T (p.Leu1449=)
NM_000492.4(CFTR):c.4353C>T (p.Pro1451=)	rs1345439008
NM_000492.4(CFTR):c.4357C>G (p.Arg1453Gly)	rs4148725
NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)
NM_000492.4(CFTR):c.4365A>G (p.Ser1455=)
NM_000492.4(CFTR):c.4368C>G (p.Ser1456Arg)	rs1793394598
NM_000492.4(CFTR):c.4371G>A (p.Lys1457=)
NM_000492.4(CFTR):c.4377G>A (p.Lys1459=)	rs1554397779
NM_000492.4(CFTR):c.4380T>C (p.Ser1460=)
NM_000492.4(CFTR):c.4387_4388del (p.Gln1463fs)	rs2116226651
NM_000492.4(CFTR):c.4392del (p.Ile1464fs)	rs1793395260
NM_000492.4(CFTR):c.4410G>A (p.Glu1470=)	rs1466916972
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)	rs397508716
NM_000492.4(CFTR):c.4422G>A (p.Glu1474=)
NM_000492.4(CFTR):c.4425G>A (p.Val1475=)	rs776922524
NM_000492.4(CFTR):c.4431T>C (p.Asp1477=)	rs765554812
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)	rs753173837
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro)	rs758818611

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