ClinVar Miner

Variants in gene CCDC88C with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 26
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HGVS dbSNP gnomAD frequency
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys) rs142539336 0.00436
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg) rs200543687 0.00216
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172 0.00212
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.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.1527+8G>A rs151228192 0.00084
NM_001080414.4(CCDC88C):c.2393C>T (p.Ala798Val) rs200650758 0.00081
NM_001080414.4(CCDC88C):c.4579A>G (p.Thr1527Ala) rs201414940 0.00057
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001080414.4(CCDC88C):c.4375G>A (p.Asp1459Asn) rs78570354 0.00035
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.708C>T (p.Ser236=) rs745338278 0.00004
NM_001080414.4(CCDC88C):c.4113-19C>T rs560507685 0.00003
NM_001080414.4(CCDC88C):c.2066C>G (p.Ser689Cys)
NM_001080414.4(CCDC88C):c.2365C>T (p.Leu789=)
NM_001080414.4(CCDC88C):c.2650G>A (p.Gly884Ser)
NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)
NM_001080414.4(CCDC88C):c.5161G>A (p.Gly1721Arg)
NM_001080414.4(CCDC88C):c.5578C>T (p.Arg1860Trp)
NM_001080414.4(CCDC88C):c.5975_5976delinsCT (p.Leu1992Pro) rs1555413299
NM_001080414.4(CCDC88C):c.5981G>T (p.Arg1994Leu)

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