ClinVar Miner

List of variants in gene combination CFTR, LOC111674477 reported as likely benign for Cystic fibrosis

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Total variants: 51
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HGVS dbSNP gnomAD frequency
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.4320C>T (p.Ala1440=) rs1292837576 0.00001
NM_000492.4(CFTR):c.4336A>C (p.Arg1446=) rs985995406 0.00001
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn) rs983279303 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.4243-4C>G
NM_000492.4(CFTR):c.4243-576A>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.4245C>T (p.Val1415=)
NM_000492.4(CFTR):c.4263G>A (p.Val1421=) rs1793385225
NM_000492.4(CFTR):c.4266G>A (p.Arg1422=)
NM_000492.4(CFTR):c.4269G>A (p.Gln1423=) rs2116226188
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.4314G>T (p.Arg1438=)
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.4329C>G (p.Pro1443=)
NM_000492.4(CFTR):c.4329C>T (p.Pro1443=)
NM_000492.4(CFTR):c.4332C>T (p.Ser1444=) rs779359608
NM_000492.4(CFTR):c.4335C>T (p.Asp1445=)
NM_000492.4(CFTR):c.4338G>A (p.Arg1446=)
NM_000492.4(CFTR):c.4344G>A (p.Lys1448=)
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>A (p.Arg1453=)
NM_000492.4(CFTR):c.4365A>G (p.Ser1455=)
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.4384C>T (p.Pro1462Ser)
NM_000492.4(CFTR):c.4399C>T (p.Leu1467=)
NM_000492.4(CFTR):c.4410G>A (p.Glu1470=) rs1466916972
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

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