ClinVar Miner

List of variants in gene CEP164 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Total variants: 39
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HGVS dbSNP
NM_014956.4(CEP164):c.3216+20_3216+33delCTGGGGGCTGGGGC rs200103555
NM_014956.5(CEP164):c.1409+10G>A rs199783386
NM_014956.5(CEP164):c.1430A>G (p.His477Arg) rs117083334
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp) rs112209873
NM_014956.5(CEP164):c.1452C>T (p.Pro484=) rs373736623
NM_014956.5(CEP164):c.1480C>A (p.Pro494Thr) rs114396665
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter) rs387907311
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys) rs116343381
NM_014956.5(CEP164):c.1692G>A (p.Ala564=) rs143512199
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter) rs145646425
NM_014956.5(CEP164):c.2205C>T (p.Ser735=) rs494553
NM_014956.5(CEP164):c.2427G>A (p.Lys809=) rs201002987
NM_014956.5(CEP164):c.2493+1G>A
NM_014956.5(CEP164):c.2562del (p.Met854fs) rs1565582604
NM_014956.5(CEP164):c.2655C>T (p.Thr885=) rs61737637
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp) rs387907310
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp)
NM_014956.5(CEP164):c.2844+8A>G rs142545580
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val) rs1264586687
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro) rs387907309
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu) rs61995733
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=) rs149567170
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln) rs150963269
NM_014956.5(CEP164):c.381dup (p.Lys128fs) rs747914869
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=) rs115051850
NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser) rs61743854
NM_014956.5(CEP164):c.395C>G (p.Ala132Gly) rs61746874
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=) rs373842310
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=) rs73016324
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg) rs1565649749
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser) rs146501105
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys) rs1565416876
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly)

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