ClinVar Miner

List of variants in gene ARID1A reported as pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter) rs1557591264
NM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter) rs781090386
NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter) rs2124789497
NM_006015.6(ARID1A):c.1850C>A (p.Ser617Ter) rs2124792461
NM_006015.6(ARID1A):c.2122C>T (p.Gln708Ter) rs2124056600
NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter) rs387906845
NM_006015.6(ARID1A):c.2879-1G>A rs1570607996
NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp) rs2124086560
NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter) rs2081053546
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) rs797045262
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006015.6(ARID1A):c.394del (p.Val132fs) rs797045263
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter) rs1485978447
NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter) rs2081169212
NM_006015.6(ARID1A):c.5693del (p.Pro1898fs) rs1570621899
NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs) rs2124144295
NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter) rs879255270
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs) rs1557620758
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) rs2124740134

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