ClinVar Miner

List of variants in gene combination CFTR, LOC111674475 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NC_000007.13:g.(?_117227773)_(117227921_?)del
NM_000492.3(CFTR):c.1585-1G>A rs76713772
NM_000492.3(CFTR):c.1585-2A>G rs397508233
NM_000492.3(CFTR):c.1585-8G>A rs193922503
NM_000492.3(CFTR):c.1586_1679+1del rs1562906265
NM_000492.3(CFTR):c.1601C>A (p.Ala534Glu) rs387906368
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn) rs121908755
NM_000492.3(CFTR):c.1646G>T (p.Ser549Ile) rs121908755
NM_000492.3(CFTR):c.1647T>A (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.1648G>T (p.Gly550Ter) rs397508247
NM_000492.3(CFTR):c.1650del (p.Gly551fs) rs397508251
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.3(CFTR):c.1656del (p.Gln552fs) rs397508253
NM_000492.3(CFTR):c.1657C>T (p.Arg553Ter) rs74597325
NM_000492.3(CFTR):c.1658G>A (p.Arg553Gln) rs121909044
NM_000492.3(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser) rs193922504
NM_000492.3(CFTR):c.1675G>A (p.Ala559Thr) rs75549581
NM_000492.3(CFTR):c.1679+1G>A rs397508263
NM_000492.3(CFTR):c.1679+1G>C rs397508263
NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr) rs80055610

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