ClinVar Miner

List of variants in gene CCDC88C reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.5980C>G (p.Arg1994Gly) rs45560241 0.00650
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500 0.00494
NM_001080414.4(CCDC88C):c.912C>T (p.Asp304=) rs61736349 0.00446
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys) rs142539336 0.00436
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.4707G>A (p.Arg1569=) rs145210051 0.00218
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172 0.00212
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) rs142295786 0.00150
NM_001080414.4(CCDC88C):c.5296G>A (p.Val1766Met) rs201931182 0.00138
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.1527+8G>A rs151228192 0.00084
NM_001080414.4(CCDC88C):c.6026C>T (p.Pro2009Leu) rs201940261 0.00078
NM_001080414.4(CCDC88C):c.5381C>G (p.Pro1794Arg) rs200077683 0.00055
NM_001080414.4(CCDC88C):c.3981C>T (p.Leu1327=) rs201259963 0.00048
NM_001080414.4(CCDC88C):c.4673T>C (p.Phe1558Ser) rs201391511 0.00048
NM_001080414.4(CCDC88C):c.2255A>G (p.Lys752Arg) rs199967225 0.00043
NM_001080414.4(CCDC88C):c.1715C>T (p.Ser572Leu) rs200999247 0.00041
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.702C>T (p.Ala234=) rs188457701 0.00021
NM_001080414.4(CCDC88C):c.3663G>A (p.Ala1221=) rs368871964 0.00013
NM_001080414.4(CCDC88C):c.4377C>T (p.Asp1459=) rs377506651 0.00011
NM_001080414.4(CCDC88C):c.4412G>A (p.Arg1471His) rs201606038 0.00011
NM_001080414.4(CCDC88C):c.5112C>T (p.Ser1704=) rs199730476 0.00011
NM_001080414.4(CCDC88C):c.5331G>C (p.Leu1777=) rs759310053 0.00011
NM_001080414.4(CCDC88C):c.5102G>A (p.Arg1701Gln) rs768365233 0.00008
NM_001080414.4(CCDC88C):c.1680G>A (p.Glu560=) rs186738597 0.00006
NM_001080414.4(CCDC88C):c.5836C>T (p.Arg1946Cys) rs371862576 0.00005
NM_001080414.4(CCDC88C):c.1341C>T (p.Asp447=) rs200285250 0.00004
NM_001080414.4(CCDC88C):c.708C>T (p.Ser236=) rs745338278 0.00004
NM_001080414.4(CCDC88C):c.809+7C>T rs575390201 0.00004
NM_001080414.4(CCDC88C):c.956G>A (p.Arg319Gln) rs772125931 0.00004
NM_001080414.4(CCDC88C):c.4512C>T (p.Thr1504=) rs760856363 0.00002
NM_001080414.4(CCDC88C):c.462C>T (p.Gly154=) rs779046050 0.00002
NM_001080414.4(CCDC88C):c.4969G>A (p.Gly1657Arg) rs769028445 0.00002
NM_001080414.4(CCDC88C):c.1794G>A (p.Thr598=) rs373532637 0.00001
NM_001080414.4(CCDC88C):c.5284G>A (p.Ala1762Thr) rs201104260 0.00001
NM_001080414.4(CCDC88C):c.1257G>A (p.Glu419=)
NM_001080414.4(CCDC88C):c.185G>A (p.Arg62His) rs757076773
NM_001080414.4(CCDC88C):c.2650G>A (p.Gly884Ser)
NM_001080414.4(CCDC88C):c.2908ACA[1] (p.Thr971del) rs760595514
NM_001080414.4(CCDC88C):c.3210G>A (p.Gln1070=)
NM_001080414.4(CCDC88C):c.3271A>G (p.Ser1091Gly)
NM_001080414.4(CCDC88C):c.3677G>A (p.Arg1226Gln)
NM_001080414.4(CCDC88C):c.3784A>C (p.Asn1262His)
NM_001080414.4(CCDC88C):c.4111A>G (p.Ile1371Val)
NM_001080414.4(CCDC88C):c.458C>A (p.Ala153Asp)
NM_001080414.4(CCDC88C):c.5197G>A (p.Val1733Ile)
NM_001080414.4(CCDC88C):c.5378C>G (p.Ala1793Gly)
NM_001080414.4(CCDC88C):c.5537A>C (p.Gln1846Pro) rs1596008488
NM_001080414.4(CCDC88C):c.6054G>A (p.Pro2018=)
NM_001080414.4(CCDC88C):c.624+8C>T
NM_001080414.4(CCDC88C):c.913G>C (p.Ala305Pro) rs755409670
NM_001080414.4(CCDC88C):c.973G>T (p.Val325Leu)

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