ClinVar Miner

List of variants in gene ARID1A reported as likely 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: 23
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HGVS dbSNP gnomAD frequency
NM_006015.6(ARID1A):c.1920+3_1920+6del rs2124792810
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe) rs1553152590
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg) rs1557612048
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr) rs1570609440
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro) rs2124087634
NM_006015.6(ARID1A):c.3198+2dup
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)
NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs) rs2124114899
NM_006015.6(ARID1A):c.4102-1G>C rs2081113293
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs) rs1553153291
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro) rs797045264
NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter) rs2124742621
NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr) rs2081174839
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr) rs1570622663
NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys) rs869312956
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile) rs1553153783

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