ClinVar Miner

List of variants in gene CFTR, LOC111674475 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
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Total variants: 51
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HGVS dbSNP
NC_000007.13:g.(?_117227773)_(117227921_?)del
NM_000492.3(CFTR):c.(1716+1_1717-1)_(1811+1_1812-1)del rs1562906265
NM_000492.3(CFTR):c.1585-19T>C rs778457306
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.1585-9T>A rs397508234
NM_000492.3(CFTR):c.1585-9T>C rs397508234
NM_000492.3(CFTR):c.1585G>A (p.Asp529Asn) rs397508235
NM_000492.3(CFTR):c.1588A>C (p.Ile530Leu) rs397508237
NM_000492.3(CFTR):c.1597T>C (p.Phe533Leu) rs397508238
NM_000492.3(CFTR):c.1601C>A (p.Ala534Glu) rs387906368
NM_000492.3(CFTR):c.1606A>T (p.Lys536Ter) rs148173473
NM_000492.3(CFTR):c.1611_1612del (p.Asp537fs) rs397508239
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1630G>A (p.Gly544Ser) rs762224063
NM_000492.3(CFTR):c.1631G>T (p.Gly544Val) rs397508241
NM_000492.3(CFTR):c.1634G>T (p.Gly545Val) rs1387755887
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>A (p.Gly550Arg) rs397508247
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.1652del (p.Gly551fs) rs397508252
NM_000492.3(CFTR):c.1654C>A (p.Gln552Lys) rs76554633
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>G (p.Arg553Gly) rs74597325
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.1660_1661insA (p.Ala554fs) rs397508254
NM_000492.3(CFTR):c.1663A>G (p.Arg555Gly) rs397508255
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
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.1678A>G (p.Arg560Gly) rs397508260
NM_000492.3(CFTR):c.1679+116G>T rs207468451
NM_000492.3(CFTR):c.1679+16T>C rs397508262
NM_000492.3(CFTR):c.1679+18G>A rs369294289
NM_000492.3(CFTR):c.1679+1G>A rs397508263
NM_000492.3(CFTR):c.1679+1G>C rs397508263
NM_000492.3(CFTR):c.1679+5A>G rs397508264
NM_000492.3(CFTR):c.1679+9C>G rs775440240
NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr) rs80055610

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