List of variants in gene CC2D1A reported as uncertain significance for Intellectual disability, autosomal recessive 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 45

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HGVS	dbSNP	gnomAD frequency
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)	rs202057391	0.00464
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)	rs191830054	0.00256
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.15_23dup (p.7_9PPG[3])	rs755038966	0.00107
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His)	rs201921029	0.00072
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)	rs201251295	0.00070
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.1095G>T (p.Gln365His)	rs201420492	0.00051
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)	rs199644216	0.00043
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp)	rs376443152	0.00030
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys)	rs199893133	0.00024
NM_017721.5(CC2D1A):c.2495C>G (p.Ala832Gly)	rs187418052	0.00023
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr)	rs201374643	0.00016
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn)	rs775641463	0.00007
NM_017721.5(CC2D1A):c.460G>A (p.Ala154Thr)	rs202025962	0.00007
NM_017721.5(CC2D1A):c.2405C>T (p.Thr802Met)	rs527316620	0.00005
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His)	rs542798158	0.00005
NM_017721.5(CC2D1A):c.1442C>T (p.Ala481Val)	rs201665162	0.00004
NM_017721.5(CC2D1A):c.1724G>A (p.Arg575His)	rs760191095	0.00003
NM_017721.5(CC2D1A):c.2674G>A (p.Ala892Thr)	rs532037297	0.00003
NM_017721.5(CC2D1A):c.2776G>C (p.Asp926His)	rs576457697	0.00003
NM_017721.5(CC2D1A):c.1187G>A (p.Arg396Gln)	rs1240076813	0.00001
NM_017721.5(CC2D1A):c.1584G>C (p.Lys528Asn)	rs1180111779	0.00001
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val)	rs529368098	0.00001
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser)	rs746894472	0.00001
NM_017721.5(CC2D1A):c.2071G>A (p.Val691Met)	rs780097665	0.00001
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp)	rs781491587	0.00001
NM_017721.5(CC2D1A):c.602C>T (p.Pro201Leu)	rs367739982	0.00001
NM_017721.5(CC2D1A):c.992C>T (p.Thr331Ile)	rs781498477	0.00001
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp)	rs774357851
NM_017721.5(CC2D1A):c.123T>A (p.Asp41Glu)	rs375971219
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met)	rs200445152
NM_017721.5(CC2D1A):c.1437C>T (p.Ala479=)	rs1971378002
NM_017721.5(CC2D1A):c.1666G>A (p.Asp556Asn)	rs1971475798
NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1])	rs1028125077
NM_017721.5(CC2D1A):c.1903A>T (p.Thr635Ser)
NM_017721.5(CC2D1A):c.2073+5G>T	rs200005213
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His)	rs1194702277
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)	rs77389229
NM_017721.5(CC2D1A):c.2365C>T (p.Arg789Trp)
NM_017721.5(CC2D1A):c.2705G>A (p.Arg902Gln)	rs368221981
NM_017721.5(CC2D1A):c.2836-3C>A	rs779898425
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys)	rs1568405628

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