ClinVar Miner

List of variants in gene CFTR, LOC111674477 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 40
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HGVS dbSNP
NC_000007.13:g.(?_117304714)_(117308205_?)del
NC_000007.13:g.117304742_117307162del
NM_000492.3(CFTR):c.3964-78_4242+577del
NM_000492.3(CFTR):c.4243-20A>G rs138025486
NM_000492.3(CFTR):c.4243-2A>G rs397508705
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.4243-7delT rs878854021
NM_000492.3(CFTR):c.4251del (p.Glu1418fs) rs397508706
NM_000492.3(CFTR):c.4252G>T (p.Glu1418Ter) rs397508707
NM_000492.3(CFTR):c.4252del (p.Glu1418fs) rs1554397750
NM_000492.3(CFTR):c.4256A>T (p.Asn1419Ile) rs1461912555
NM_000492.3(CFTR):c.4261G>T (p.Val1421Leu)
NM_000492.3(CFTR):c.4266G>T (p.Arg1422=)
NM_000492.3(CFTR):c.4272C>A (p.Tyr1424Ter) rs1800135
NM_000492.3(CFTR):c.4272C>G (p.Tyr1424Ter) rs1800135
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.4276T>C (p.Ser1426Pro) rs397508708
NM_000492.3(CFTR):c.4277C>A (p.Ser1426Tyr) rs762847468
NM_000492.3(CFTR):c.4277C>T (p.Ser1426Phe) rs762847468
NM_000492.3(CFTR):c.4280T>C (p.Ile1427Thr) rs193922528
NM_000492.3(CFTR):c.4291_4299del (p.Leu1431_Glu1433del) rs747078069
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.4297G>A (p.Glu1433Lys) rs750559671
NM_000492.3(CFTR):c.4297G>T (p.Glu1433Ter) rs750559671
NM_000492.3(CFTR):c.4298_4299AG[3] (p.Ser1435fs) rs397508709
NM_000492.3(CFTR):c.4312C>T (p.Arg1438Trp) rs397508711
NM_000492.3(CFTR):c.4329del (p.Ser1444fs) rs1554397769
NM_000492.3(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445
NM_000492.3(CFTR):c.4339del (p.Arg1446_Val1447insTer) rs1554397772
NM_000492.3(CFTR):c.4340T>A (p.Val1447Glu) rs1397796355
NM_000492.3(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725
NM_000492.3(CFTR):c.4363T>G (p.Ser1455Ala)
NM_000492.3(CFTR):c.4364C>A (p.Ser1455Ter) rs121909043
NM_000492.3(CFTR):c.4364C>G (p.Ser1455Ter) rs121909043
NM_000492.3(CFTR):c.4377G>A (p.Lys1459=) rs1554397779
NM_000492.3(CFTR):c.4389G>A (p.Gln1463=) rs1800136
NM_000492.3(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa) rs1562929636
NM_000492.3(CFTR):c.4400del (p.Leu1467fs) rs1562929633
NM_000492.3(CFTR):c.4417G>T (p.Glu1473Ter) rs397508716
NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585

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