ClinVar Miner

List of variants in gene CFTR reported as likely pathogenic by Mendelics

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Total variants: 23
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HGVS dbSNP
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
NM_000492.3(CFTR):c.100_117del (p.Leu34_Gln39del) rs397508141
NM_000492.3(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.137C>T (p.Ala46Val)
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.3(CFTR):c.1505T>G (p.Ile502Ser) rs397508222
NM_000492.3(CFTR):c.1525G>C (p.Gly509Arg) rs1562898465
NM_000492.3(CFTR):c.1547_1548del (p.Arg516fs) rs1562898489
NM_000492.3(CFTR):c.1559T>A (p.Val520Asp) rs1562898510
NM_000492.3(CFTR):c.1760T>C (p.Phe587Ser) rs1562907260
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.325T>C (p.Tyr109His) rs397508522
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.3(CFTR):c.3739G>A (p.Gly1247Arg) rs397508601
NM_000492.3(CFTR):c.4124A>C (p.His1375Pro) rs397508678
NM_000492.3(CFTR):c.4242+5G>A rs1562929196
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.950T>A (p.Val317Glu) rs1204521684

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