ClinVar Miner

List of variants in gene ATAD3A studied for Harel-Yoon syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_001170535.3(ATAD3A):c.*94G>A rs3128344 0.72133
NM_001170535.3(ATAD3A):c.1615-85T>C rs6698376 0.33673
NM_001170535.3(ATAD3A):c.206-12T>C rs9439458 0.27602
NM_001170535.3(ATAD3A):c.1267-8C>G rs186268381 0.02490
NM_001170535.3(ATAD3A):c.1215-6T>C rs112869160 0.00644
NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser) rs2767471 0.00200
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val) rs138594222 0.00040
NM_001170535.3(ATAD3A):c.1633G>A (p.Glu545Lys) rs149497281 0.00039
NM_001170535.3(ATAD3A):c.1693C>T (p.His565Tyr) rs200344678 0.00027
NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp) rs375517057 0.00007
NM_001170535.3(ATAD3A):c.1090-3C>G rs375967157 0.00004
NM_001170535.3(ATAD3A):c.1751C>T (p.Ser584Phe) rs770924627 0.00004
NM_001170535.3(ATAD3A):c.932C>G (p.Pro311Arg) rs767934619 0.00004
NM_001170535.3(ATAD3A):c.1487C>T (p.Pro496Leu) rs758650672 0.00003
NM_001170535.3(ATAD3A):c.1577C>G (p.Ser526Trp) rs773606388 0.00001
NM_001170535.3(ATAD3A):c.1602C>T (p.Ala534=) rs780963309 0.00001
NM_001170535.3(ATAD3A):c.283-158G>A rs940108737 0.00001
NM_001170535.3(ATAD3A):c.508C>T (p.Arg170Trp) rs1167820219 0.00001
NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=) rs776672631 0.00001
NM_001170535.3(ATAD3A):c.986G>A (p.Arg329His) rs1641699576 0.00001
NC_000001.10:g.(?_1447541)_(1447854_1451391)del
NM_001170535.3(ATAD3A):c.*146C>G rs9439464
NM_001170535.3(ATAD3A):c.*147G>C rs3128343
NM_001170535.3(ATAD3A):c.*154C>T rs35611435
NM_001170535.3(ATAD3A):c.1006A>G (p.Arg336Gly) rs1641700970
NM_001170535.3(ATAD3A):c.1045C>G (p.Leu349Val) rs372111873
NM_001170535.3(ATAD3A):c.1072A>T (p.Lys358Ter) rs2100667492
NM_001170535.3(ATAD3A):c.1076C>T (p.Thr359Met) rs1346418902
NM_001170535.3(ATAD3A):c.1141dup (p.Val381fs) rs1641722871
NM_001170535.3(ATAD3A):c.1193G>A (p.Trp398Ter) rs2100668792
NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser) rs2100677960
NM_001170535.3(ATAD3A):c.1414del (p.His472fs) rs1172676832
NM_001170535.3(ATAD3A):c.1447C>G (p.Arg483Gly) rs145811436
NM_001170535.3(ATAD3A):c.150C>G (p.Phe50Leu) rs1641223867
NM_001170535.3(ATAD3A):c.155C>T (p.Pro52Leu) rs2100637798
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001170535.3(ATAD3A):c.1583G>A (p.Arg528Gln) rs902213391
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001170535.3(ATAD3A):c.1700AGA[1] (p.Lys568del) rs745393319
NM_001170535.3(ATAD3A):c.282+484_444+231del
NM_001170535.3(ATAD3A):c.283-60del rs1557458134
NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn) rs1427452560
NM_001170535.3(ATAD3A):c.480_500del (p.Glu161_Glu167del) rs2100654285
NM_001170535.3(ATAD3A):c.515-4G>C rs775516601
NM_001170535.3(ATAD3A):c.521T>G (p.Val174Gly) rs750196319
NM_001170535.3(ATAD3A):c.547A>G (p.Lys183Glu) rs1193481758
NM_001170535.3(ATAD3A):c.700G>A (p.Gly234Arg) rs1641553966
NM_001170535.3(ATAD3A):c.707G>T (p.Gly236Val) rs1641554297
NM_001170535.3(ATAD3A):c.736A>G (p.Lys246Glu) rs1641555589
NM_001170535.3(ATAD3A):c.739G>A (p.Val247Met) rs1179360173
NM_001170535.3(ATAD3A):c.750+10C>A rs569633380
NM_001170535.3(ATAD3A):c.817C>A (p.Arg273Ser) rs574343682
NM_001170535.3(ATAD3A):c.964-1G>T rs1641698007
NM_001170535.3(ATAD3A):c.980G>C (p.Arg327Pro) rs200238845
NM_031921.6(ATAD3B):c.1058C>T (p.Pro353Leu)
NM_031921.6(ATAD3B):c.131A>G (p.Lys44Arg)
NM_031921.6(ATAD3B):c.1373A>C (p.Gln458Pro)
NM_031921.6(ATAD3B):c.1611G>A (p.Trp537Ter)
NM_031921.6(ATAD3B):c.1639G>C (p.Gly547Arg)
NM_031921.6(ATAD3B):c.1680_1682delTGCinsCTT (p.Ala561Phe)
NM_031921.6(ATAD3B):c.527G>A (p.Arg176Gln)

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