ClinVar Miner

List of variants in gene CC2D2A reported by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001378615.1(CC2D2A):c.1468C>T (p.Gln490Ter) rs1288358527
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter) rs1560180188
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001378615.1(CC2D2A):c.4396_4400del (p.Phe1466fs) rs1176927796
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter) rs1553845300
NM_001378615.1(CC2D2A):c.565G>A (p.Glu189Lys) rs1560157691

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