ClinVar Miner

List of variants in gene ARID1B reported as uncertain significance for Inborn genetic diseases

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Gene type:
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Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.4315G>A (p.Gly1439Arg) rs199674889 0.00026
NM_001374828.1(ARID1B):c.2205A>T (p.Glu735Asp) rs139125255 0.00022
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala) rs1455234951 0.00019
NM_001374828.1(ARID1B):c.1597C>T (p.Pro533Ser) rs752684703 0.00004
NM_001374828.1(ARID1B):c.4154A>C (p.Gln1385Pro) rs768013849 0.00004
NM_001374828.1(ARID1B):c.5726A>G (p.Lys1909Arg) rs574141489 0.00004
NM_001374828.1(ARID1B):c.2405C>A (p.Pro802Gln) rs1318967699 0.00003
NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser) rs151115781 0.00003
NM_001374828.1(ARID1B):c.6110G>A (p.Arg2037Gln) rs751391187 0.00003
NM_001374828.1(ARID1B):c.1403G>A (p.Gly468Asp) rs1276959546 0.00002
NM_001374828.1(ARID1B):c.2047T>C (p.Tyr683His) rs141395733 0.00002
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr) rs761093701 0.00002
NM_001374828.1(ARID1B):c.1112A>G (p.Glu371Gly) rs980540915 0.00001
NM_001374828.1(ARID1B):c.1439C>T (p.Ser480Leu) rs1235258455 0.00001
NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr) rs1296293849 0.00001
NM_001374828.1(ARID1B):c.4379G>A (p.Arg1460Gln) rs761133847 0.00001
NM_001374828.1(ARID1B):c.4609C>G (p.Pro1537Ala) rs140639463 0.00001
NM_001374828.1(ARID1B):c.4610C>T (p.Pro1537Leu) rs530430137 0.00001
NM_001374828.1(ARID1B):c.5027C>T (p.Ala1676Val) rs762698567 0.00001
NM_001374828.1(ARID1B):c.5149G>A (p.Gly1717Arg) rs1329932861 0.00001
NM_001374828.1(ARID1B):c.6254A>G (p.Asp2085Gly) rs757294414 0.00001
NM_001374820.1(ARID1B):c.4756G>A (p.Asp1586Asn) rs1346882502
NM_001374828.1(ARID1B):c.1036A>T (p.Met346Leu)
NM_001374828.1(ARID1B):c.1061C>T (p.Ala354Val)
NM_001374828.1(ARID1B):c.1075G>C (p.Ala359Pro) rs767529376
NM_001374828.1(ARID1B):c.1126A>T (p.Ser376Cys)
NM_001374828.1(ARID1B):c.1175G>A (p.Gly392Asp)
NM_001374828.1(ARID1B):c.1209C>G (p.Ser403Arg)
NM_001374828.1(ARID1B):c.1214G>A (p.Gly405Glu)
NM_001374828.1(ARID1B):c.1255G>A (p.Ala419Thr)
NM_001374828.1(ARID1B):c.1278_1292del (p.Ala429_Ala433del) rs775733700
NM_001374828.1(ARID1B):c.1294G>T (p.Ala432Ser)
NM_001374828.1(ARID1B):c.1309G>A (p.Gly437Ser)
NM_001374828.1(ARID1B):c.1313G>A (p.Gly438Asp)
NM_001374828.1(ARID1B):c.1331C>T (p.Ser444Leu) rs867510345
NM_001374828.1(ARID1B):c.1411G>A (p.Ala471Thr) rs1778968749
NM_001374828.1(ARID1B):c.1436G>T (p.Gly479Val)
NM_001374828.1(ARID1B):c.1438T>G (p.Ser480Ala)
NM_001374828.1(ARID1B):c.1484C>G (p.Pro495Arg)
NM_001374828.1(ARID1B):c.1523C>T (p.Ser508Leu)
NM_001374828.1(ARID1B):c.1553G>A (p.Gly518Asp)
NM_001374828.1(ARID1B):c.1559A>G (p.Tyr520Cys)
NM_001374828.1(ARID1B):c.1580G>A (p.Ser527Asn)
NM_001374828.1(ARID1B):c.1600T>C (p.Ser534Pro)
NM_001374828.1(ARID1B):c.1601C>G (p.Ser534Trp)
NM_001374828.1(ARID1B):c.1603C>G (p.Gln535Glu)
NM_001374828.1(ARID1B):c.1604A>C (p.Gln535Pro)
NM_001374828.1(ARID1B):c.1607C>G (p.Pro536Arg)
NM_001374828.1(ARID1B):c.1610A>G (p.Gln537Arg)
NM_001374828.1(ARID1B):c.1616_1630del (p.Gln539_Gly544delinsArg)
NM_001374828.1(ARID1B):c.1627G>A (p.Ala543Thr)
NM_001374828.1(ARID1B):c.1631G>C (p.Gly544Ala)
NM_001374828.1(ARID1B):c.1684A>G (p.Met562Val)
NM_001374828.1(ARID1B):c.1765C>T (p.Pro589Ser)
NM_001374828.1(ARID1B):c.1825C>T (p.Pro609Ser)
NM_001374828.1(ARID1B):c.2214C>A (p.Asn738Lys)
NM_001374828.1(ARID1B):c.2284A>G (p.Thr762Ala)
NM_001374828.1(ARID1B):c.2399G>C (p.Ser800Thr)
NM_001374828.1(ARID1B):c.2500A>G (p.Met834Val)
NM_001374828.1(ARID1B):c.2833G>A (p.Gly945Ser)
NM_001374828.1(ARID1B):c.3209_3220del (p.Ala1070_Met1073del)
NM_001374828.1(ARID1B):c.3230C>T (p.Ser1077Leu)
NM_001374828.1(ARID1B):c.3281T>C (p.Leu1094Pro)
NM_001374828.1(ARID1B):c.3542C>T (p.Thr1181Met)
NM_001374828.1(ARID1B):c.3575G>A (p.Arg1192Lys)
NM_001374828.1(ARID1B):c.3586G>A (p.Val1196Ile)
NM_001374828.1(ARID1B):c.3607A>C (p.Met1203Leu) rs760633180
NM_001374828.1(ARID1B):c.3715-6C>G
NM_001374828.1(ARID1B):c.3718A>T (p.Asn1240Tyr)
NM_001374828.1(ARID1B):c.3857C>T (p.Pro1286Leu)
NM_001374828.1(ARID1B):c.4062C>G (p.Ser1354Arg)
NM_001374828.1(ARID1B):c.4063A>G (p.Ser1355Gly)
NM_001374828.1(ARID1B):c.4081G>A (p.Asp1361Asn)
NM_001374828.1(ARID1B):c.4150C>G (p.Gln1384Glu)
NM_001374828.1(ARID1B):c.4172A>C (p.Asp1391Ala)
NM_001374828.1(ARID1B):c.4452C>A (p.His1484Gln)
NM_001374828.1(ARID1B):c.4540A>G (p.Met1514Val)
NM_001374828.1(ARID1B):c.4710G>A (p.Met1570Ile)
NM_001374828.1(ARID1B):c.4713G>T (p.Met1571Ile)
NM_001374828.1(ARID1B):c.4781T>C (p.Met1594Thr) rs1794067085
NM_001374828.1(ARID1B):c.5042C>G (p.Ser1681Cys) rs1562346609
NM_001374828.1(ARID1B):c.5084C>G (p.Ser1695Cys)
NM_001374828.1(ARID1B):c.5086C>G (p.Pro1696Ala)
NM_001374828.1(ARID1B):c.5182G>A (p.Glu1728Lys) rs976192470
NM_001374828.1(ARID1B):c.5339C>T (p.Thr1780Ile)
NM_001374828.1(ARID1B):c.5350C>T (p.Leu1784Phe)
NM_001374828.1(ARID1B):c.5390C>T (p.Ser1797Phe)
NM_001374828.1(ARID1B):c.5496A>T (p.Lys1832Asn) rs1362951381
NM_001374828.1(ARID1B):c.5504A>C (p.Asp1835Ala)
NM_001374828.1(ARID1B):c.5510A>G (p.Asn1837Ser)
NM_001374828.1(ARID1B):c.5512G>C (p.Ala1838Pro)
NM_001374828.1(ARID1B):c.5608G>A (p.Asp1870Asn)
NM_001374828.1(ARID1B):c.5644G>A (p.Glu1882Lys)
NM_001374828.1(ARID1B):c.5763T>G (p.Phe1921Leu)
NM_001374828.1(ARID1B):c.5767G>T (p.Val1923Phe)
NM_001374828.1(ARID1B):c.5942A>G (p.Glu1981Gly)
NM_001374828.1(ARID1B):c.6065A>C (p.Glu2022Ala)
NM_001374828.1(ARID1B):c.6124C>A (p.Leu2042Met) rs1562352930
NM_001374828.1(ARID1B):c.6451T>G (p.Leu2151Val)
NM_001374828.1(ARID1B):c.6501C>G (p.Ile2167Met)
NM_001374828.1(ARID1B):c.6545C>T (p.Pro2182Leu)
NM_001374828.1(ARID1B):c.6587A>C (p.Asn2196Thr) rs1430704414
NM_001374828.1(ARID1B):c.6763A>G (p.Met2255Val)
NM_001374828.1(ARID1B):c.6791G>A (p.Gly2264Glu)

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