ClinVar Miner

List of variants studied for Intellectual disability, autosomal dominant 45 by Revvity Omics, Revvity

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001386298.1(CIC):c.6611C>T (p.Pro2204Leu) rs374363627 0.00025
NM_001386298.1(CIC):c.5299C>T (p.Pro1767Ser) rs139895527 0.00024
NM_001386298.1(CIC):c.4673C>T (p.Ser1558Phe) rs758817184 0.00006
NM_001386298.1(CIC):c.7095C>G (p.Asp2365Glu) rs146337288 0.00005
NM_001386298.1(CIC):c.3992G>A (p.Arg1331Gln) rs779676461 0.00004
NM_001386298.1(CIC):c.4928C>T (p.Ser1643Leu) rs587778197 0.00003
NM_001386298.1(CIC):c.7469C>T (p.Ser2490Leu) rs530430600 0.00003
NM_001386298.1(CIC):c.4724G>A (p.Arg1575His) rs199751904 0.00001
NM_001386298.1(CIC):c.4726C>A (p.Pro1576Thr) rs778219736 0.00001
NM_001386298.1(CIC):c.2878C>T (p.Pro960Ser) rs756596852
NM_001386298.1(CIC):c.3025G>A (p.Ala1009Thr) rs1445017300
NM_001386298.1(CIC):c.3812G>C (p.Ser1271Thr) rs2513879594
NM_001386298.1(CIC):c.4674CGCCCC[3] (p.Pro1562_Ser1563insAlaPro) rs1265581254

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