ClinVar Miner

List of variants in gene combination CFTR, LOC111674477 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
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Gene type:
ClinVar version:
Total variants: 71
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HGVS dbSNP gnomAD frequency
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.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.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.*5C>T
NM_000492.4(CFTR):c.4243-3T>C
NM_000492.4(CFTR):c.4243-7del rs878854021
NM_000492.4(CFTR):c.4244T>G (p.Val1415Gly) rs779591474
NM_000492.4(CFTR):c.4248A>T (p.Ile1416=)
NM_000492.4(CFTR):c.4251A>C (p.Glu1417Asp) rs1793384834
NM_000492.4(CFTR):c.4253A>G (p.Glu1418Gly)
NM_000492.4(CFTR):c.4256A>T (p.Asn1419Ile) rs1461912555
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>T (p.Arg1422=) rs545385510
NM_000492.4(CFTR):c.4268A>G (p.Gln1423Arg)
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr) rs762847468
NM_000492.4(CFTR):c.4291_4299del (p.Leu1431_Glu1433del) rs747078069
NM_000492.4(CFTR):c.4292T>G (p.Leu1431Arg)
NM_000492.4(CFTR):c.4296C>G (p.Asn1432Lys) rs761669740
NM_000492.4(CFTR):c.4298A>G (p.Glu1433Gly)
NM_000492.4(CFTR):c.4299G>C (p.Glu1433Asp)
NM_000492.4(CFTR):c.4304G>A (p.Ser1435Asn)
NM_000492.4(CFTR):c.4305C>G (p.Ser1435Arg)
NM_000492.4(CFTR):c.4319C>G (p.Ala1440Gly)
NM_000492.4(CFTR):c.4323C>G (p.Ile1441Met)
NM_000492.4(CFTR):c.4325G>C (p.Ser1442Thr)
NM_000492.4(CFTR):c.4327C>T (p.Pro1443Ser) rs1336644939
NM_000492.4(CFTR):c.4328C>G (p.Pro1443Arg)
NM_000492.4(CFTR):c.4328C>T (p.Pro1443Leu)
NM_000492.4(CFTR):c.4331C>T (p.Ser1444Phe)
NM_000492.4(CFTR):c.4336A>G (p.Arg1446Gly) rs985995406
NM_000492.4(CFTR):c.4339G>A (p.Val1447Met)
NM_000492.4(CFTR):c.4345_*487delinsTTG (p.Phe1450fs)
NM_000492.4(CFTR):c.4346T>C (p.Leu1449Pro)
NM_000492.4(CFTR):c.4354C>T (p.His1452Tyr)
NM_000492.4(CFTR):c.4357C>G (p.Arg1453Gly) rs4148725
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.4391T>C (p.Ile1464Thr)
NM_000492.4(CFTR):c.4394C>G (p.Ala1465Gly)
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.4423G>T (p.Val1475Leu) rs369464175
NM_000492.4(CFTR):c.4424T>C (p.Val1475Ala)
NM_000492.4(CFTR):c.4430A>T (p.Asp1477Val)
NM_000492.4(CFTR):c.4433C>A (p.Thr1478Lys)
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) rs753173837
NM_000492.4(CFTR):c.4439T>C (p.Leu1480Pro) rs758818611

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