ClinVar Miner

List of variants reported as likely pathogenic for Snijders blok-campeau syndrome

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Total variants: 13
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HGVS dbSNP
NM_001005271.3(CHD3):c.2834A>G (p.His945Arg) rs1567855081
NM_001005271.3(CHD3):c.3073C>T (p.Arg1025Trp) rs1064795892
NM_001005271.3(CHD3):c.3074G>A (p.Arg1025Gln) rs1555611692
NM_001005271.3(CHD3):c.4202G>A (p.Arg1401Gln) rs1567863732
NM_001005273.2(CHD3):c.2761G>A (p.Glu921Lys) rs1567855704
NM_001005273.2(CHD3):c.2882G>A (p.Gly961Glu) rs1567856045
NM_001005273.2(CHD3):c.3407C>T (p.Thr1136Ile) rs1567860640
NM_001005273.2(CHD3):c.3482A>G (p.His1161Arg) rs1567860919
NM_001005273.2(CHD3):c.3512A>G (p.His1171Arg) rs1567861489
NM_001005273.2(CHD3):c.3707T>C (p.Leu1236Pro) rs1567861894
NM_001005273.2(CHD3):c.5642G>T (p.Arg1881Leu) rs1567877108
NM_001005273.3(CHD3):c.3359A>T (p.Asp1120Val)
NM_005852.4(CHD3):c.3357_3358delinsTC (p.Asp1120His) rs1567860075

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