ClinVar Miner

List of variants studied for Coffin-Siris syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (24):
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.6110G>A (p.Arg2037Gln) rs751391187 0.00003
NM_001374828.1(ARID1B):c.1046T>G (p.Met349Arg) rs1401971317 0.00002
NM_001374828.1(ARID1B):c.1987-10T>G rs1276255111 0.00001
NM_001374828.1(ARID1B):c.482C>T (p.Ala161Val) rs752961325 0.00001
NM_001330288.2(SMARCC2):c.1926+1G>A rs1555221275
NM_001330288.2(SMARCC2):c.3221dup (p.Gly1075fs) rs752001894
NM_001330288.2(SMARCC2):c.434G>C (p.Cys145Ser) rs1876933164
NM_001374828.1(ARID1B):c.1170CGG[9] (p.Gly402dup) rs587779747
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs) rs1131691339
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) rs1057518951
NM_001374828.1(ARID1B):c.253G>T (p.Ala85Ser) rs1349412123
NM_001374828.1(ARID1B):c.4245C>G (p.Ser1415Arg) rs1453138221
NM_001374828.1(ARID1B):c.4383-1G>A rs886044620
NM_001374828.1(ARID1B):c.4479+1G>T rs1554235041
NM_001374828.1(ARID1B):c.4894G>A (p.Glu1632Lys) rs1340183572
NM_001374828.1(ARID1B):c.5092C>G (p.Leu1698Val) rs1794104878
NM_001374828.1(ARID1B):c.6592G>T (p.Val2198Phe) rs1794548648
NM_001374828.1(ARID1B):c.6898dup (p.His2300fs) rs1794570475
NM_003107.3(SOX4):c.697_708del (p.Ala233_Ser236del) rs1171444727
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) rs375761808
NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del) rs2081176133
NM_006268.5(DPF2):c.364C>G (p.Leu122Val) rs1854369385

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