List of variants reported as pathogenic for adenylosuccinate lyase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)	rs119450941	0.00024
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)	rs374259530	0.00009
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)	rs746501563	0.00002
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)	rs777821034	0.00001
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)	rs750614500	0.00001

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