ClinVar Miner

List of variants in gene ARID1A reported as uncertain significance for Coffin-Siris syndrome

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_006015.6(ARID1A):c.2615T>C (p.Met872Thr) rs140568310 0.00040
NM_006015.6(ARID1A):c.4702C>T (p.Pro1568Ser) rs113718290 0.00030
NM_006015.6(ARID1A):c.5731A>G (p.Met1911Val) rs755338885 0.00006
NM_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr) rs199776442 0.00003
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) rs1295137307 0.00002
NM_006015.6(ARID1A):c.1430A>G (p.His477Arg) rs757458581 0.00002
NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu) rs969170076 0.00002
NM_006015.6(ARID1A):c.4388G>A (p.Arg1463His) rs752827461 0.00002
NM_006015.6(ARID1A):c.6785C>T (p.Ser2262Leu) rs375849292 0.00002
NM_006015.6(ARID1A):c.163G>A (p.Gly55Arg) rs1482791997 0.00001
NM_006015.6(ARID1A):c.2320C>T (p.Arg774Cys) rs1466882490 0.00001
NM_006015.6(ARID1A):c.2756A>G (p.Asn919Ser) rs1250258763 0.00001
NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg) rs1167372383 0.00001
NM_006015.6(ARID1A):c.328A>G (p.Arg110Gly) rs1444337339 0.00001
NM_006015.6(ARID1A):c.437C>T (p.Pro146Leu) rs781072025 0.00001
NM_006015.6(ARID1A):c.4631C>T (p.Ser1544Leu) rs1326693674 0.00001
NM_006015.6(ARID1A):c.4783A>G (p.Met1595Val) rs1463725053 0.00001
NM_006015.6(ARID1A):c.4792C>T (p.Arg1598Cys) rs781689378 0.00001
NM_006015.6(ARID1A):c.592C>T (p.Pro198Ser) rs777557012 0.00001
NM_006015.6(ARID1A):c.6466A>G (p.Ser2156Gly) rs1191962249 0.00001
NM_006015.6(ARID1A):c.1246G>A (p.Gly416Arg)
NM_006015.6(ARID1A):c.1350+1G>T
NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys) rs2124788689
NM_006015.6(ARID1A):c.1522C>T (p.Pro508Ser)
NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg) rs2080256530
NM_006015.6(ARID1A):c.2019G>T (p.Gln673His)
NM_006015.6(ARID1A):c.203C>T (p.Pro68Leu)
NM_006015.6(ARID1A):c.2186C>T (p.Pro729Leu) rs2080990909
NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys) rs1292150071
NM_006015.6(ARID1A):c.2380G>A (p.Gly794Arg) rs2080999624
NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu) rs1285265984
NM_006015.6(ARID1A):c.250_267dup (p.Gly84_Gly89dup) rs777773061
NM_006015.6(ARID1A):c.260G>C (p.Gly87Ala)
NM_006015.6(ARID1A):c.261_275del (p.Ala88_Gly92del) rs2080257947
NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu) rs2081008426
NM_006015.6(ARID1A):c.2660C>G (p.Pro887Arg) rs2124070027
NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr) rs2124741075
NM_006015.6(ARID1A):c.270C>A (p.Ser90Arg)
NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup) rs2080258350
NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp) rs2081039231
NM_006015.6(ARID1A):c.2878+5G>A
NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys) rs2080258690
NM_006015.6(ARID1A):c.2943G>A (p.Met981Ile)
NM_006015.6(ARID1A):c.2988+3A>T
NM_006015.6(ARID1A):c.3049G>A (p.Glu1017Lys) rs2081052425
NM_006015.6(ARID1A):c.3185G>A (p.Gly1062Asp)
NM_006015.6(ARID1A):c.320C>T (p.Ala107Val)
NM_006015.6(ARID1A):c.3217T>C (p.Trp1073Arg)
NM_006015.6(ARID1A):c.3276G>T (p.Leu1092Phe) rs2081080248
NM_006015.6(ARID1A):c.3286T>C (p.Tyr1096His)
NM_006015.6(ARID1A):c.3344C>G (p.Pro1115Arg)
NM_006015.6(ARID1A):c.334G>A (p.Ala112Thr)
NM_006015.6(ARID1A):c.3902G>A (p.Ser1301Asn)
NM_006015.6(ARID1A):c.3978GCA[4] (p.Gln1331_Gln1334del)
NM_006015.6(ARID1A):c.4004+5G>A rs2081106391
NM_006015.6(ARID1A):c.4114C>A (p.Pro1372Thr) rs745873673
NM_006015.6(ARID1A):c.4121A>G (p.Asp1374Gly)
NM_006015.6(ARID1A):c.4148G>A (p.Arg1383Gln)
NM_006015.6(ARID1A):c.4412A>G (p.Asn1471Ser)
NM_006015.6(ARID1A):c.4715A>G (p.Tyr1572Cys) rs768023738
NM_006015.6(ARID1A):c.4868C>T (p.Ser1623Leu)
NM_006015.6(ARID1A):c.4874T>C (p.Ile1625Thr)
NM_006015.6(ARID1A):c.493G>C (p.Ala165Pro)
NM_006015.6(ARID1A):c.495_500del (p.Ala166_Ala167del) rs2124742134
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly) rs375761808
NM_006015.6(ARID1A):c.5104A>G (p.Met1702Val) rs2081128316
NM_006015.6(ARID1A):c.513ACA[1] (p.Gln172del) rs1557570075
NM_006015.6(ARID1A):c.5254A>G (p.Lys1752Glu) rs1348258521
NM_006015.6(ARID1A):c.5702G>A (p.Gly1901Glu) rs2124141958
NM_006015.6(ARID1A):c.5939G>A (p.Arg1980His)
NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del) rs2081176133
NM_006015.6(ARID1A):c.6163A>G (p.Met2055Val)
NM_006015.6(ARID1A):c.6425G>A (p.Ser2142Asn)
NM_006015.6(ARID1A):c.6437A>G (p.Lys2146Arg) rs2124149077
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) rs2124740134

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