ClinVar Miner

List of variants studied for COFFIN-SIRIS SYNDROME 6

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Total variants: 8
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HGVS dbSNP
ARID2, 105-KB DEL, EX3-5DEL
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.156del (p.Arg53fs) rs1555139310
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) rs1555154946
NM_152641.4(ARID2):c.2536del (p.Val846fs) rs796052240
NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs) rs1555155252
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152641.4(ARID2):c.4441del (p.His1481fs) rs796052241

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