ClinVar Miner

List of variants studied for Coffin-Siris syndrome by Centogene AG - the Rare Disease Company

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)
NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile) rs2128635041
NM_001374828.1(ARID1B):c.5264-2A>G rs1794274425
NM_003107.3(SOX4):c.1382A>T (p.Asp461Val) rs2113558999
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu) rs1665662335

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