List of variants in gene combination CFTR, LOC111674477 reported by Ambry Genetics

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: 77

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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.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.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.4312C>T (p.Arg1438Trp)	rs397508711	0.00001
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln)	rs975983947	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.4436G>A (p.Arg1479Lys)	rs1325117166	0.00001
NM_000492.4(CFTR):c.*5C>T
NM_000492.4(CFTR):c.4243-16A>G	rs780125251
NM_000492.4(CFTR):c.4243-3T>C
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)	rs397508706
NM_000492.4(CFTR):c.4253A>G (p.Glu1418Gly)
NM_000492.4(CFTR):c.4261G>C (p.Val1421Leu)
NM_000492.4(CFTR):c.4264C>G (p.Arg1422Gly)
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp)	rs373172017
NM_000492.4(CFTR):c.4265G>C (p.Arg1422Pro)
NM_000492.4(CFTR):c.4266G>A (p.Arg1422=)
NM_000492.4(CFTR):c.4268A>G (p.Gln1423Arg)
NM_000492.4(CFTR):c.4269G>A (p.Gln1423=)	rs2116226188
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)	rs762847468
NM_000492.4(CFTR):c.4284G>A (p.Gln1428=)
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.4299G>C (p.Glu1433Asp)
NM_000492.4(CFTR):c.4314G>T (p.Arg1438=)
NM_000492.4(CFTR):c.4319C>G (p.Ala1440Gly)
NM_000492.4(CFTR):c.4323C>G (p.Ile1441Met)
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser)	rs1336644939
NM_000492.4(CFTR):c.4328C>T (p.Pro1443Leu)
NM_000492.4(CFTR):c.4331C>T (p.Ser1444Phe)
NM_000492.4(CFTR):c.4332C>T (p.Ser1444=)	rs779359608
NM_000492.4(CFTR):c.4336A>G (p.Arg1446Gly)	rs985995406
NM_000492.4(CFTR):c.4338G>A (p.Arg1446=)
NM_000492.4(CFTR):c.4339G>A (p.Val1447Met)
NM_000492.4(CFTR):c.4339del (p.Arg1446_Val1447insTer)	rs1554397772
NM_000492.4(CFTR):c.4344G>A (p.Lys1448=)
NM_000492.4(CFTR):c.4346T>C (p.Leu1449Pro)
NM_000492.4(CFTR):c.4347C>T (p.Leu1449=)
NM_000492.4(CFTR):c.4357C>A (p.Arg1453=)
NM_000492.4(CFTR):c.4358G>A (p.Arg1453Gln)
NM_000492.4(CFTR):c.4368C>G (p.Ser1456Arg)	rs1793394598
NM_000492.4(CFTR):c.4370A>T (p.Lys1457Met)
NM_000492.4(CFTR):c.4371G>A (p.Lys1457=)
NM_000492.4(CFTR):c.4377G>A (p.Lys1459=)	rs1554397779
NM_000492.4(CFTR):c.4384C>T (p.Pro1462Ser)
NM_000492.4(CFTR):c.4391T>C (p.Ile1464Thr)
NM_000492.4(CFTR):c.4394C>G (p.Ala1465Gly)
NM_000492.4(CFTR):c.4399C>T (p.Leu1467=)
NM_000492.4(CFTR):c.4410G>A (p.Glu1470=)	rs1466916972
NM_000492.4(CFTR):c.4412C>T (p.Thr1471Ile)
NM_000492.4(CFTR):c.4415A>T (p.Glu1472Val)
NM_000492.4(CFTR):c.4417G>A (p.Glu1473Lys)	rs397508716
NM_000492.4(CFTR):c.4422G>A (p.Glu1474=)
NM_000492.4(CFTR):c.4423G>T (p.Val1475Leu)	rs369464175
NM_000492.4(CFTR):c.4424T>C (p.Val1475Ala)
NM_000492.4(CFTR):c.4425G>A (p.Val1475=)	rs776922524
NM_000492.4(CFTR):c.4430A>T (p.Asp1477Val)
NM_000492.4(CFTR):c.4431T>C (p.Asp1477=)	rs765554812
NM_000492.4(CFTR):c.4433C>A (p.Thr1478Lys)
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg)	rs753173837

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