ClinVar Miner

List of variants studied for Coffin-Siris syndrome 6 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006015.6(ARID1A):c.4783A>G (p.Met1595Val) rs1463725053 0.00001
NM_003072.5(SMARCA4):c.4904A>G (p.Gln1635Arg) rs1568566518
NM_152641.4(ARID2):c.1588G>T (p.Ala530Ser)
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) rs1555154946

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