ClinVar Miner

List of variants reported as uncertain significance for Adenylosuccinate lyase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.403-4G>A rs373652667 0.00064
NM_000026.4(ADSL):c.363G>A (p.Leu121=) rs138203195 0.00036
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000026.4(ADSL):c.*45A>T rs180726920 0.00017
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464 0.00015
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_000026.4(ADSL):c.1200T>C (p.His400=) rs751401941 0.00005
NM_000026.4(ADSL):c.1011-9G>C rs780794164 0.00004
NM_000026.4(ADSL):c.763C>T (p.Leu255=) rs771049726 0.00003
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr) rs755688868 0.00002
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943 0.00002
NM_000026.2(ADSL):c.-64C>A rs576843830 0.00001
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val) rs886057505 0.00001
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831 0.00001
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys) rs181252862 0.00001
NM_000026.4(ADSL):c.-29G>C rs2044143205
NM_000026.4(ADSL):c.-35G>T rs750649096
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu) rs774693972
NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys) rs572438339
NM_000026.4(ADSL):c.578T>C (p.Leu193Pro) rs2044667301
NM_000026.4(ADSL):c.702-3T>A rs1229114572
NM_000026.4(ADSL):c.872C>T (p.Ala291Val) rs2044788378

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