ClinVar Miner

List of variants in gene CC2D2A reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738 0.00005
NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro) rs763425007 0.00003
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His) rs886940102 0.00002
NM_001378615.1(CC2D2A):c.2486+1G>C rs386833747 0.00001
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=) rs765873247 0.00001
NM_001378615.1(CC2D2A):c.438+1G>A rs1453265480 0.00001
NC_000004.11:g.(?_15478346)_(15482422_?)del
NM_001378615.1(CC2D2A):c.1018-1G>A rs1716886666
NM_001378615.1(CC2D2A):c.123+2T>G
NM_001378615.1(CC2D2A):c.124-1G>C
NM_001378615.1(CC2D2A):c.1359+1G>C
NM_001378615.1(CC2D2A):c.1466+1G>A
NM_001378615.1(CC2D2A):c.1466+2T>C rs770219362
NM_001378615.1(CC2D2A):c.1467-1G>A
NM_001378615.1(CC2D2A):c.1608-2A>G
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg) rs754221308
NM_001378615.1(CC2D2A):c.1765-1G>C
NM_001378615.1(CC2D2A):c.2004-1G>A
NM_001378615.1(CC2D2A):c.2338+2T>C
NM_001378615.1(CC2D2A):c.247+1G>A rs765072583
NM_001378615.1(CC2D2A):c.248-1G>A rs2108998253
NM_001378615.1(CC2D2A):c.2486+1G>A
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)
NM_001378615.1(CC2D2A):c.2830-1G>A
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.3015-1G>C
NM_001378615.1(CC2D2A):c.3182+1G>A
NM_001378615.1(CC2D2A):c.3183-1G>T rs1719930798
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys) rs2109070604
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.337-2A>C
NM_001378615.1(CC2D2A):c.3399-1G>C
NM_001378615.1(CC2D2A):c.3399-3C>A rs386833753
NM_001378615.1(CC2D2A):c.3595-1G>T
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu) rs1720595936
NM_001378615.1(CC2D2A):c.3975+1G>T
NM_001378615.1(CC2D2A):c.3975+2T>G
NM_001378615.1(CC2D2A):c.4065+1G>A
NM_001378615.1(CC2D2A):c.4065+2T>C rs1179041639
NM_001378615.1(CC2D2A):c.4066-1G>A rs867390302
NM_001378615.1(CC2D2A):c.4179+1G>A rs886044295
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001378615.1(CC2D2A):c.4303_4314+1del
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)
NM_001378615.1(CC2D2A):c.540+1G>A rs1296652053
NM_001378615.1(CC2D2A):c.717+1G>A
NM_001378615.1(CC2D2A):c.717+1G>T rs1027674181

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