ClinVar Miner

List of variants in gene ASXL3 studied for developmental disorder of mental health

Included ClinVar conditions (728):
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Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val) rs151081332 0.00217
NM_030632.3(ASXL3):c.6346G>A (p.Ala2116Thr) rs117661115 0.00208
NM_030632.3(ASXL3):c.1733C>T (p.Ser578Phe) rs199871043 0.00008
NM_030632.3(ASXL3):c.4039G>A (p.Gly1347Arg) rs967367864 0.00003
NM_030632.3(ASXL3):c.6281G>A (p.Cys2094Tyr) rs1172659745 0.00001
NM_030632.3(ASXL3):c.3040-8C>T rs1268795000
NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs) rs2067697776
NM_030632.3(ASXL3):c.3737C>A (p.Ser1246Ter)
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs) rs1599573656
NM_030632.3(ASXL3):c.4409del (p.Pro1470fs)
NM_030632.3(ASXL3):c.5221T>G (p.Ser1741Ala)
NM_030632.3(ASXL3):c.5257_5267del (p.Leu1753fs) rs2067754658
NM_030632.3(ASXL3):c.6395A>C (p.Lys2132Thr)

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