ClinVar Miner

List of variants in gene CCDC88C studied for not specified

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Total variants: 62
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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.4433T>C (p.Val1478Ala) rs201222692 0.00627
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.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=) rs61736349 0.00446
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695 0.00383
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu) rs202217944 0.00330
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506 0.00293
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.4707G>A (p.Arg1569=) rs145210051 0.00218
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172 0.00212
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020 0.00136
NM_001080414.4(CCDC88C):c.4327G>A (p.Ala1443Thr) rs189215037 0.00133
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.1878G>C (p.Lys626Asn) rs78468999 0.00105
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001080414.4(CCDC88C):c.5906C>T (p.Pro1969Leu) rs138924295 0.00075
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00045
NM_001080414.4(CCDC88C):c.1715C>T (p.Ser572Leu) rs200999247 0.00041
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.6024T>C (p.Ser2008=) rs372767405 0.00021
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.184C>T (p.Arg62Cys) rs767068265 0.00002
NM_001080414.4(CCDC88C):c.2554G>C (p.Asp852His) rs777136693 0.00001
NM_001080414.4(CCDC88C):c.3904G>A (p.Glu1302Lys) rs761146967 0.00001
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.2171C>T (p.Ala724Val)
NM_001080414.4(CCDC88C):c.2233G>A (p.Asp745Asn)
NM_001080414.4(CCDC88C):c.2416C>T (p.Leu806Phe)
NM_001080414.4(CCDC88C):c.3811G>A (p.Glu1271Lys)
NM_001080414.4(CCDC88C):c.3890A>T (p.Gln1297Leu) rs1290225236
NM_001080414.4(CCDC88C):c.5954C>G (p.Ser1985Cys) rs3814839
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro) rs1555413299

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