ClinVar Miner

List of variants in gene CIB1 studied for not provided

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Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_006384.4(CIB1):c.466-5C>G rs1044813 0.24875
NM_006384.4(CIB1):c.87-84C>T rs4451921 0.20932
NM_006384.4(CIB1):c.435T>C (p.Ser145=) rs34958365 0.01197
NM_006384.4(CIB1):c.444G>A (p.Glu148=) rs34645714 0.00418
NM_006384.4(CIB1):c.309G>A (p.Thr103=) rs142784235 0.00113
NM_006384.4(CIB1):c.195+8C>T rs200574955 0.00078
NM_006384.4(CIB1):c.87-82A>G rs559105655 0.00061
NM_006384.4(CIB1):c.346+8C>T rs375148975 0.00038
NM_006384.4(CIB1):c.347-9G>C rs200906231 0.00036
NM_006384.4(CIB1):c.554+14C>A rs376858222 0.00032
NM_006384.4(CIB1):c.119A>C (p.Gln40Pro) rs144124621 0.00023
NM_006384.4(CIB1):c.133G>A (p.Val45Met) rs190155231 0.00019
NM_006384.4(CIB1):c.308C>T (p.Thr103Met) rs147405990 0.00018
NM_006384.4(CIB1):c.299A>G (p.Asp100Gly) rs139764460 0.00015
NM_006384.4(CIB1):c.148C>T (p.Arg50Trp) rs572714028 0.00014
NM_006384.4(CIB1):c.87-110G>C rs979488875 0.00011
NM_006384.4(CIB1):c.428G>A (p.Arg143Gln) rs761859158 0.00010
NM_006384.4(CIB1):c.369G>C (p.Leu123Phe) rs767933367 0.00009
NM_006384.4(CIB1):c.555-17G>A rs750620059 0.00009
NM_006384.4(CIB1):c.550G>C (p.Ala184Pro) rs957577705 0.00008
NM_006384.4(CIB1):c.87-13C>T rs200217485 0.00007
NM_006384.4(CIB1):c.149G>A (p.Arg50Gln) rs201700406 0.00006
NM_006384.4(CIB1):c.196-14G>A rs369459169 0.00006
NM_006384.4(CIB1):c.361G>A (p.Gly121Arg) rs766491256 0.00006
NM_006384.4(CIB1):c.463A>G (p.Asn155Asp) rs146621891 0.00006
NM_006384.4(CIB1):c.460G>C (p.Asp154His) rs201298867 0.00005
NM_006384.4(CIB1):c.87-40C>T rs145112624 0.00005
NM_006384.4(CIB1):c.128G>A (p.Arg43Gln) rs747765776 0.00004
NM_006384.4(CIB1):c.195+14C>T rs775347344 0.00004
NM_006384.4(CIB1):c.214C>T (p.Arg72Ter) rs143773090 0.00004
NM_006384.4(CIB1):c.323C>T (p.Ser108Phe) rs775594329 0.00004
NM_006384.4(CIB1):c.407C>T (p.Thr136Met) rs368617389 0.00004
NM_006384.4(CIB1):c.244G>A (p.Ala82Thr) rs562237879 0.00003
NM_006384.4(CIB1):c.388C>T (p.Arg130Trp) rs775021192 0.00002
NM_006384.4(CIB1):c.459C>T (p.Ile153=) rs563075894 0.00002
NM_006384.4(CIB1):c.465+19C>T rs758328291 0.00002
NM_006384.4(CIB1):c.87-111C>T rs1022917223 0.00002
NM_006384.4(CIB1):c.87-39G>A rs756243511 0.00002
NM_006384.4(CIB1):c.196G>A (p.Ala66Thr) rs1282252900 0.00001
NM_006384.4(CIB1):c.215G>A (p.Arg72Gln) rs775605318 0.00001
NM_006384.4(CIB1):c.284T>C (p.Leu95Pro) rs766485187 0.00001
NM_006384.4(CIB1):c.338G>A (p.Arg113His) rs747497642 0.00001
NM_006384.4(CIB1):c.357T>C (p.Asp119=) rs755078702 0.00001
NM_006384.4(CIB1):c.417C>T (p.Gly139=) rs141456665 0.00001
NM_006384.4(CIB1):c.418G>A (p.Glu140Lys) rs765061684 0.00001
NM_006384.4(CIB1):c.427C>T (p.Arg143Trp) rs777654090 0.00001
NM_006384.4(CIB1):c.437C>T (p.Ala146Val) rs560810851 0.00001
NM_006384.4(CIB1):c.507C>A (p.Asn169Lys) rs1962466963 0.00001
NM_006384.4(CIB1):c.546C>A (p.Asp182Glu) rs753043127 0.00001
NM_006384.4(CIB1):c.87-24C>T rs529369950 0.00001
NM_006384.4(CIB1):c.87-35G>T rs759890736 0.00001
NC_000015.9:g.(?_90773716)_(90777117_?)dup
NM_006384.4(CIB1):c.-1_1delinsTT (p.Met1Leu)
NM_006384.4(CIB1):c.119A>G (p.Gln40Arg)
NM_006384.4(CIB1):c.129G>A (p.Arg43=)
NM_006384.4(CIB1):c.132C>A (p.Ser44Arg) rs1127801
NM_006384.4(CIB1):c.132C>T (p.Ser44=)
NM_006384.4(CIB1):c.132del (p.Ser44fs)
NM_006384.4(CIB1):c.135G>A (p.Val45=)
NM_006384.4(CIB1):c.140C>T (p.Ser47Leu) rs369465701
NM_006384.4(CIB1):c.141G>A (p.Ser47=)
NM_006384.4(CIB1):c.148C>G (p.Arg50Gly) rs572714028
NM_006384.4(CIB1):c.164T>C (p.Phe55Ser) rs979925740
NM_006384.4(CIB1):c.165C>T (p.Phe55=)
NM_006384.4(CIB1):c.195+15C>T
NM_006384.4(CIB1):c.195+4C>G
NM_006384.4(CIB1):c.196-5C>T
NM_006384.4(CIB1):c.196-5_196-3del rs773349164
NM_006384.4(CIB1):c.200A>G (p.Asn67Ser)
NM_006384.4(CIB1):c.226_228del (p.Val76del) rs1436830862
NM_006384.4(CIB1):c.237A>G (p.Thr79=)
NM_006384.4(CIB1):c.242dup (p.Ala82fs)
NM_006384.4(CIB1):c.244G>C (p.Ala82Pro) rs562237879
NM_006384.4(CIB1):c.270C>T (p.Asp90=) rs2151635043
NM_006384.4(CIB1):c.286A>C (p.Ser96Arg)
NM_006384.4(CIB1):c.316A>C (p.Ile106Leu)
NM_006384.4(CIB1):c.327T>C (p.His109=)
NM_006384.4(CIB1):c.346+8C>A
NM_006384.4(CIB1):c.347-11C>A
NM_006384.4(CIB1):c.347-11C>G
NM_006384.4(CIB1):c.347-17C>G
NM_006384.4(CIB1):c.347-18C>T rs1962479718
NM_006384.4(CIB1):c.347-6C>T
NM_006384.4(CIB1):c.347-6_347-3del rs34604050
NM_006384.4(CIB1):c.350_351del (p.Asp116_Phe117insTer) rs893423761
NM_006384.4(CIB1):c.356A>G (p.Asp119Gly)
NM_006384.4(CIB1):c.360C>T (p.Asp120=)
NM_006384.4(CIB1):c.372C>T (p.Asn124=)
NM_006384.4(CIB1):c.381C>T (p.Asp127=)
NM_006384.4(CIB1):c.390G>C (p.Arg130=)
NM_006384.4(CIB1):c.412G>A (p.Glu138Lys)
NM_006384.4(CIB1):c.413_414del (p.Glu138fs)
NM_006384.4(CIB1):c.421G>A (p.Asp141Asn) rs757062860
NM_006384.4(CIB1):c.425C>G (p.Thr142Arg) rs2151634758
NM_006384.4(CIB1):c.438G>A (p.Ala146=)
NM_006384.4(CIB1):c.452A>G (p.Gln151Arg)
NM_006384.4(CIB1):c.456C>T (p.Leu152=)
NM_006384.4(CIB1):c.459C>G (p.Ile153Met)
NM_006384.4(CIB1):c.460G>T (p.Asp154Tyr) rs201298867
NM_006384.4(CIB1):c.465+14C>G
NM_006384.4(CIB1):c.465+8G>A
NM_006384.4(CIB1):c.466-10C>T
NM_006384.4(CIB1):c.466-11C>G rs1353563885
NM_006384.4(CIB1):c.466-11C>T
NM_006384.4(CIB1):c.466-12_466-11del
NM_006384.4(CIB1):c.466-13C>G
NM_006384.4(CIB1):c.466-3C>T
NM_006384.4(CIB1):c.476A>T (p.Glu159Val) rs772925077
NM_006384.4(CIB1):c.506A>G (p.Asn169Ser) rs1476470839
NM_006384.4(CIB1):c.513dup (p.Glu172Ter)
NM_006384.4(CIB1):c.525C>T (p.His175=)
NM_006384.4(CIB1):c.536G>A (p.Arg179His) rs145803459
NM_006384.4(CIB1):c.536G>T (p.Arg179Leu)
NM_006384.4(CIB1):c.538T>A (p.Ser180Thr) rs2151634567
NM_006384.4(CIB1):c.547T>C (p.Phe183Leu) rs1292530632
NM_006384.4(CIB1):c.554+13T>C
NM_006384.4(CIB1):c.554+17C>T
NM_006384.4(CIB1):c.555-18C>A
NM_006384.4(CIB1):c.570C>A (p.Val190=)
NM_006384.4(CIB1):c.87-111C>G
NM_006384.4(CIB1):c.87-114G>T rs1034081676
NM_006384.4(CIB1):c.87-116G>A rs779349877
NM_006384.4(CIB1):c.87-121G>T
NM_006384.4(CIB1):c.87-124G>C
NM_006384.4(CIB1):c.87-125G>A
NM_006384.4(CIB1):c.87-126C>G rs1962519470
NM_006384.4(CIB1):c.87-137G>A
NM_006384.4(CIB1):c.87-140G>A
NM_006384.4(CIB1):c.87-34C>A rs1299639922
NM_006384.4(CIB1):c.87-35G>A rs759890736
NM_006384.4(CIB1):c.87-3C>T
NM_006384.4(CIB1):c.87-44A>C rs2151635684
NM_006384.4(CIB1):c.87-69A>G
NM_006384.4(CIB1):c.87-75G>C
NM_006384.4(CIB1):c.96G>A (p.Arg32=)
NM_006384.4(CIB1):c.97C>A (p.Arg33=)

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