ClinVar Miner

List of variants in gene CFTR, LOC111674475 studied for autosomal recessive disease

Included ClinVar conditions (1167):
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207 0.00022
NM_000492.4(CFTR):c.1679+16T>C rs397508262 0.00013
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter) rs74597325 0.00012
NM_000492.4(CFTR):c.1585-1G>A rs76713772 0.00008
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755 0.00006
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr) rs75549581 0.00006
NM_000492.4(CFTR):c.1679+18G>A rs369294289 0.00006
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00004
NM_000492.4(CFTR):c.1585-19T>C rs778457306 0.00003
NM_000492.4(CFTR):c.1600G>T (p.Ala534Ser) rs1276867493 0.00003
NM_000492.4(CFTR):c.1658G>A (p.Arg553Gln) rs121909044 0.00003
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr) rs80055610 0.00002
NM_000492.4(CFTR):c.1585-7G>A rs1367201083 0.00001
NM_000492.4(CFTR):c.1587C>T (p.Asp529=) rs772895745 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu) rs148173473 0.00001
NM_000492.4(CFTR):c.1614T>A (p.Asn538Lys) rs1196851290 0.00001
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr) rs144745159 0.00001
NM_000492.4(CFTR):c.1618G>A (p.Val540Ile) rs187318937 0.00001
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser) rs762224063 0.00001
NM_000492.4(CFTR):c.1632T>G (p.Gly544=) rs767846505 0.00001
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg) rs121909005 0.00001
NM_000492.4(CFTR):c.1655A>C (p.Gln552Pro) rs1791967656 0.00001
NM_000492.4(CFTR):c.1673T>C (p.Leu558Ser) rs193922504 0.00001
NM_000492.4(CFTR):c.1674A>G (p.Leu558=) rs770896561 0.00001
NM_000492.4(CFTR):c.1679+34G>T rs767901668 0.00001
NM_000492.4(CFTR):c.1679+5A>G rs397508264 0.00001
NM_000492.4(CFTR):c.1680-981T>C rs727502937 0.00001
NC_000007.14:g.(?_117587719)_(117587867_?)del
NM_000492.4(CFTR):c.1585-15T>G
NM_000492.4(CFTR):c.1585-2A>G rs397508233
NM_000492.4(CFTR):c.1585-2A>T rs397508233
NM_000492.4(CFTR):c.1585-5A>C
NM_000492.4(CFTR):c.1585-7G>C rs1367201083
NM_000492.4(CFTR):c.1585-7G>T rs1367201083
NM_000492.4(CFTR):c.1585-8G>A rs193922503
NM_000492.4(CFTR):c.1585-9T>A rs397508234
NM_000492.4(CFTR):c.1585-9T>C rs397508234
NM_000492.4(CFTR):c.1585G>A (p.Asp529Asn) rs397508235
NM_000492.4(CFTR):c.1586A>G (p.Asp529Gly) rs397508236
NM_000492.4(CFTR):c.1586_1679+1del rs1562906265
NM_000492.4(CFTR):c.1588A>C (p.Ile530Leu) rs397508237
NM_000492.4(CFTR):c.1588A>G (p.Ile530Val)
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
NM_000492.4(CFTR):c.1592_1593delinsG (p.Ile530_Ser531insTer)
NM_000492.4(CFTR):c.1595A>G (p.Lys532Arg)
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu) rs397508238
NM_000492.4(CFTR):c.1602A>G (p.Ala534=) rs1584810152
NM_000492.4(CFTR):c.1603G>A (p.Glu535Lys)
NM_000492.4(CFTR):c.1605G>A (p.Glu535=)
NM_000492.4(CFTR):c.1606A>T (p.Lys536Ter) rs148173473
NM_000492.4(CFTR):c.1608A>G (p.Lys536=)
NM_000492.4(CFTR):c.1610A>G (p.Asp537Gly)
NM_000492.4(CFTR):c.1611C>T (p.Asp537=)
NM_000492.4(CFTR):c.1611_1612del (p.Asp537fs) rs397508239
NM_000492.4(CFTR):c.1612A>C (p.Asn538His)
NM_000492.4(CFTR):c.1613A>G (p.Asn538Ser)
NM_000492.4(CFTR):c.1615del (p.Asn538_Ile539insTer)
NM_000492.4(CFTR):c.1616_1617dup (p.Val540Ter) rs1584810167
NM_000492.4(CFTR):c.1619T>C (p.Val540Ala)
NM_000492.4(CFTR):c.1620T>C (p.Val540=) rs1791965009
NM_000492.4(CFTR):c.1622T>C (p.Leu541Pro)
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
NM_000492.4(CFTR):c.1625del (p.Gly542fs) rs2116017718
NM_000492.4(CFTR):c.1626A>G (p.Gly542=) rs2116017741
NM_000492.4(CFTR):c.1629A>G (p.Glu543=)
NM_000492.4(CFTR):c.1631G>T (p.Gly544Val) rs397508241
NM_000492.4(CFTR):c.1634G>T (p.Gly545Val) rs1387755887
NM_000492.4(CFTR):c.1636A>C (p.Ile546Leu)
NM_000492.4(CFTR):c.1638C>T (p.Ile546=) rs1476532238
NM_000492.4(CFTR):c.1639A>G (p.Thr547Ala)
NM_000492.4(CFTR):c.1640C>G (p.Thr547Arg)
NM_000492.4(CFTR):c.1642_1643del (p.Leu548fs) rs397508246
NM_000492.4(CFTR):c.1643_1644delinsCT (p.Leu548Pro)
NM_000492.4(CFTR):c.1644G>A (p.Leu548=)
NM_000492.4(CFTR):c.1644G>T (p.Leu548=)
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) rs121908757
NM_000492.4(CFTR):c.1646G>T (p.Ser549Ile) rs121908755
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg) rs121909005
NM_000492.4(CFTR):c.1647T>C (p.Ser549=) rs121909005
NM_000492.4(CFTR):c.1648G>A (p.Gly550Arg) rs397508247
NM_000492.4(CFTR):c.1648G>T (p.Gly550Ter) rs397508247
NM_000492.4(CFTR):c.1650del (p.Gly551fs) rs397508251
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.4(CFTR):c.1652G>T (p.Gly551Val) rs75527207
NM_000492.4(CFTR):c.1652del (p.Gly551fs) rs397508252
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys) rs76554633
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter) rs76554633
NM_000492.4(CFTR):c.1656A>G (p.Gln552=)
NM_000492.4(CFTR):c.1656del (p.Gln552fs) rs397508253
NM_000492.4(CFTR):c.1657C>G (p.Arg553Gly) rs74597325
NM_000492.4(CFTR):c.1660_1661insA (p.Ala554fs) rs397508254
NM_000492.4(CFTR):c.1661C>G (p.Ala554Gly)
NM_000492.4(CFTR):c.1662A>G (p.Ala554=)
NM_000492.4(CFTR):c.1663A>G (p.Arg555Gly) rs397508255
NM_000492.4(CFTR):c.1663A>T (p.Arg555Ter)
NM_000492.4(CFTR):c.1666A>C (p.Ile556Leu)
NM_000492.4(CFTR):c.1668T>C (p.Ile556=) rs1232726281
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
NM_000492.4(CFTR):c.1670del (p.Ser557fs) rs397508257
NM_000492.4(CFTR):c.1672_1673del (p.Leu558fs)
NM_000492.4(CFTR):c.1673T>A (p.Leu558Ter)
NM_000492.4(CFTR):c.1674del (p.Ala559fs) rs397508258
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.1675G>T (p.Ala559Ser) rs75549581
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly) rs397508260
NM_000492.4(CFTR):c.1679+116G>T rs207468451
NM_000492.4(CFTR):c.1679+11A>G
NM_000492.4(CFTR):c.1679+12_1679+15del
NM_000492.4(CFTR):c.1679+14T>C
NM_000492.4(CFTR):c.1679+16T>A
NM_000492.4(CFTR):c.1679+17T>C
NM_000492.4(CFTR):c.1679+17T>G
NM_000492.4(CFTR):c.1679+18G>C
NM_000492.4(CFTR):c.1679+18G>T rs369294289
NM_000492.4(CFTR):c.1679+19G>A
NM_000492.4(CFTR):c.1679+1G>A rs397508263
NM_000492.4(CFTR):c.1679+1G>C rs397508263
NM_000492.4(CFTR):c.1679+8A>G rs769716650
NM_000492.4(CFTR):c.1679+901C>T
NM_000492.4(CFTR):c.1679+9_1679+12del
NM_000492.4(CFTR):c.1679G>A (p.Arg560Lys) rs80055610
NM_000492.4(CFTR):c.1680-1071A>G

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