ClinVar Miner

List of variants in gene CCDC88A reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_55526955)_(55539735_?)del
NC_000002.11:g.(?_55544322)_(55546160_?)del
NC_000002.11:g.(?_55544322)_(55566804_?)del
NC_000002.11:g.(?_55615894)_(55616042_?)del
NM_001365480.1(CCDC88A):c.1135G>T (p.Glu379Ter)
NM_001365480.1(CCDC88A):c.1305_1306del (p.Gln435fs) rs2104720906
NM_001365480.1(CCDC88A):c.1517del (p.Lys506fs)
NM_001365480.1(CCDC88A):c.1609C>T (p.Gln537Ter)
NM_001365480.1(CCDC88A):c.1652_1653del (p.Arg551fs)
NM_001365480.1(CCDC88A):c.1911del (p.Glu638fs) rs2104690304
NM_001365480.1(CCDC88A):c.1942del (p.Lys647_Ile648insTer) rs2104690231
NM_001365480.1(CCDC88A):c.1947_1948del (p.Asn650fs)
NM_001365480.1(CCDC88A):c.2033del (p.Thr678fs)
NM_001365480.1(CCDC88A):c.2131del (p.Glu711fs)
NM_001365480.1(CCDC88A):c.2524C>T (p.Arg842Ter) rs2104688806
NM_001365480.1(CCDC88A):c.2548dup (p.Thr850fs)
NM_001365480.1(CCDC88A):c.286C>T (p.Gln96Ter)
NM_001365480.1(CCDC88A):c.2993_2997del (p.Lys998fs) rs2104666055
NM_001365480.1(CCDC88A):c.3094C>T (p.Arg1032Ter)
NM_001365480.1(CCDC88A):c.3766C>T (p.Gln1256Ter)
NM_001365480.1(CCDC88A):c.377dup (p.Leu126fs) rs2104822324
NM_001365480.1(CCDC88A):c.4161_4162dup (p.Pro1388fs) rs2104596456
NM_001365480.1(CCDC88A):c.4444del (p.Lys1481_Met1482insTer)
NM_001365480.1(CCDC88A):c.5008_5009del (p.Lys1670fs)
NM_001365480.1(CCDC88A):c.724C>T (p.Arg242Ter)
NM_001365480.1(CCDC88A):c.739C>T (p.Gln247Ter)
NM_001365480.1(CCDC88A):c.893del (p.Leu298fs) rs2104730296
NM_001365480.1(CCDC88A):c.925C>T (p.Arg309Ter)
NM_001365480.1(CCDC88A):c.946C>T (p.Arg316Ter) rs2104730145
NM_001365480.1(CCDC88A):c.959_962del (p.Val320fs) rs1669094977

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