ClinVar Miner

List of variants in gene CIB1 reported as uncertain significance for not provided

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_006384.4(CIB1):c.87-82A>G rs559105655 0.00061
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.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.550G>C (p.Ala184Pro) rs957577705 0.00008
NM_006384.4(CIB1):c.149G>A (p.Arg50Gln) rs201700406 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.323C>T (p.Ser108Phe) rs775594329 0.00004
NM_006384.4(CIB1):c.407C>T (p.Thr136Met) rs368617389 0.00004
NM_006384.4(CIB1):c.388C>T (p.Arg130Trp) rs775021192 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.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.87-35G>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.132C>A (p.Ser44Arg) rs1127801
NM_006384.4(CIB1):c.140C>T (p.Ser47Leu) rs369465701
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.195+4C>G
NM_006384.4(CIB1):c.200A>G (p.Asn67Ser)
NM_006384.4(CIB1):c.226_228del (p.Val76del) rs1436830862
NM_006384.4(CIB1):c.244G>C (p.Ala82Pro) rs562237879
NM_006384.4(CIB1):c.286A>C (p.Ser96Arg)
NM_006384.4(CIB1):c.316A>C (p.Ile106Leu)
NM_006384.4(CIB1):c.356A>G (p.Asp119Gly)
NM_006384.4(CIB1):c.412G>A (p.Glu138Lys)
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.452A>G (p.Gln151Arg)
NM_006384.4(CIB1):c.459C>G (p.Ile153Met)
NM_006384.4(CIB1):c.460G>T (p.Asp154Tyr) rs201298867
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.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.87-116G>A rs779349877
NM_006384.4(CIB1):c.87-34C>A rs1299639922
NM_006384.4(CIB1):c.87-35G>A rs759890736
NM_006384.4(CIB1):c.87-75G>C

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