ClinVar Miner

List of variants in gene CCDC88C reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) rs941920 0.90936
NM_001080414.4(CCDC88C):c.3966+12G>A rs3742656 0.56935
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=) rs1970912 0.56314
NM_001080414.4(CCDC88C):c.4107G>A (p.Gln1369=) rs12891713 0.21964
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=) rs45437097 0.16963
NM_001080414.4(CCDC88C):c.3083C>T (p.Ala1028Val) rs1970911 0.13546
NM_001080414.4(CCDC88C):c.1131C>T (p.Gly377=) rs17127245 0.05435
NM_001080414.4(CCDC88C):c.1020C>T (p.His340=) rs17127255 0.03466
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) rs150512553 0.02576
NM_001080414.4(CCDC88C):c.3372G>A (p.Thr1124=) rs112741231 0.02197
NM_001080414.4(CCDC88C):c.1773G>A (p.Glu591=) rs7160325 0.02005
NM_001080414.4(CCDC88C):c.1909C>G (p.Leu637Val) rs7160308 0.01989
NM_001080414.4(CCDC88C):c.3393G>T (p.Ala1131=) rs73336474 0.01848
NM_001080414.4(CCDC88C):c.3636-14C>T rs112211533 0.01710
NM_001080414.4(CCDC88C):c.2432C>A (p.Ala811Glu) rs17127223 0.01535
NM_001080414.4(CCDC88C):c.5948G>C (p.Gly1983Ala) rs45542736 0.01509
NM_001080414.4(CCDC88C):c.809+11G>A rs115661164 0.01394
NM_001080414.4(CCDC88C):c.3969G>A (p.Leu1323=) rs8017119 0.01028
NM_001080414.4(CCDC88C):c.2204G>A (p.Arg735His) rs114142372 0.00949
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly) rs45560241 0.00650
NM_001080414.4(CCDC88C):c.754C>G (p.Leu252Val) rs61745576 0.00602
NM_001080414.4(CCDC88C):c.906G>A (p.Ala302=) rs11851173 0.00565
NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=) rs61736349 0.00446
NM_001080414.4(CCDC88C):c.969C>T (p.Asn323=) rs61737660 0.00287
NM_001080414.4(CCDC88C):c.5654G>A (p.Arg1885His) rs61742126 0.00262
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013 0.00125
NM_001080414.4(CCDC88C):c.2456A>G (p.Asp819Gly) rs61743881 0.00107
NM_001080414.4(CCDC88C):c.5906C>T (p.Pro1969Leu) rs138924295 0.00075
NM_001080414.4(CCDC88C):c.4621C>T (p.Arg1541Cys) rs151102993 0.00038
NM_001080414.4(CCDC88C):c.987G>A (p.Glu329=) rs139506400 0.00037
NM_001080414.4(CCDC88C):c.322G>A (p.Gly108Ser) rs61745604 0.00029
NM_001080414.4(CCDC88C):c.1962G>A (p.Leu654=) rs61746076 0.00018
NM_001080414.4(CCDC88C):c.1126C>T (p.Arg376Trp) rs754564295 0.00004
NM_001080414.4(CCDC88C):c.4894G>A (p.Glu1632Lys) rs377095559 0.00004
NM_001080414.4(CCDC88C):c.1608A>G (p.Arg536=) rs61743971
NM_001080414.4(CCDC88C):c.1675C>T (p.Leu559Phe) rs797045439
NM_001080414.4(CCDC88C):c.3890A>T (p.Gln1297Leu) rs1290225236
NM_001080414.4(CCDC88C):c.5954C>G (p.Ser1985Cys) rs3814839

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