ClinVar Miner

Variants in gene CC2D1A with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_017721.5(CC2D1A):c.314C>T (p.Ala105Val) rs192358667 0.00180
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641 0.00164
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu) rs143529486 0.00156
NM_017721.5(CC2D1A):c.2372G>A (p.Arg791Gln) rs200354654 0.00141
NM_017721.5(CC2D1A):c.2125+18G>A rs201665826 0.00093
NM_017721.5(CC2D1A):c.2508G>C (p.Glu836Asp) rs34146052 0.00076
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln) rs201251295 0.00069
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His) rs201884654 0.00064
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_017721.5(CC2D1A):c.60+10C>A rs769120532 0.00013
NM_017721.5(CC2D1A):c.959C>A (p.Pro320Gln) rs765282375 0.00013
NM_017721.5(CC2D1A):c.498C>T (p.Tyr166=) rs373022042 0.00007
NM_017721.5(CC2D1A):c.197-5G>A rs373157979 0.00003
NM_017721.5(CC2D1A):c.822C>T (p.Ala274=) rs1179685623 0.00002
NM_017721.5(CC2D1A):c.2073+7G>A rs539992718
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017721.5(CC2D1A):c.513+6_513+12del rs541952457
NM_017721.5(CC2D1A):c.696T>G (p.Ser232=) rs534160840

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