ClinVar Miner

List of variants in gene CC2D1A reported as uncertain significance for not specified

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Total variants: 39
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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.2372G>A (p.Arg791Gln) rs200354654 0.00141
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3]) rs755038966 0.00108
NM_017721.5(CC2D1A):c.2125+18G>A rs201665826 0.00093
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
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.1345G>A (p.Val449Met) rs199644216 0.00043
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys) rs199893133 0.00024
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr) rs201374643 0.00016
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.2731C>G (p.Arg911Gly) rs200848845 0.00011
NM_017721.5(CC2D1A):c.2441C>T (p.Ala814Val) rs779644080 0.00006
NM_017721.5(CC2D1A):c.2728G>A (p.Glu910Lys) rs767908962 0.00005
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His) rs542798158 0.00004
NM_017721.5(CC2D1A):c.197-5G>A rs373157979 0.00003
NM_017721.5(CC2D1A):c.380C>T (p.Pro127Leu) rs750108401 0.00003
NM_017721.5(CC2D1A):c.2146C>T (p.Leu716Phe) rs770391486 0.00002
NM_017721.5(CC2D1A):c.1379C>T (p.Thr460Ile) rs747475649 0.00001
NM_017721.5(CC2D1A):c.1388C>T (p.Pro463Leu) rs369094911 0.00001
NM_017721.5(CC2D1A):c.1838C>T (p.Ala613Val) rs368857635 0.00001
NM_017721.5(CC2D1A):c.1936A>G (p.Ile646Val) rs1488460376 0.00001
NM_017721.5(CC2D1A):c.1941-6C>T rs773170502 0.00001
NM_017721.5(CC2D1A):c.1996A>G (p.Asn666Asp) rs747760233 0.00001
NM_017721.5(CC2D1A):c.2377C>A (p.Pro793Thr) rs760711609 0.00001
NM_017721.5(CC2D1A):c.1001C>T (p.Thr334Met) rs756554308
NM_017721.5(CC2D1A):c.1561A>G (p.Lys521Glu) rs797045435
NM_017721.5(CC2D1A):c.1610C>T (p.Ser537Leu)
NM_017721.5(CC2D1A):c.2073+7G>A rs539992718
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala) rs77389229
NM_017721.5(CC2D1A):c.250C>T (p.Pro84Ser) rs797045436
NM_017721.5(CC2D1A):c.464_484dup (p.Arg155_Ala161dup) rs771412521
NM_017721.5(CC2D1A):c.657G>C (p.Ala219=) rs367628101
NM_017721.5(CC2D1A):c.696T>G (p.Ser232=) rs534160840
NM_017721.5(CC2D1A):c.946+6A>G rs1555733804

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