List of variants in gene ADSL reported as pathogenic by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)	rs119450941	0.00023
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)	rs28941471	0.00006
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)	rs119450944	0.00003
NM_000026.4(ADSL):c.-49T>C	rs1272053459	0.00002
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)	rs119450943	0.00002
NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)	rs119450940
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala)	rs119450942
NM_000026.4(ADSL):c.674T>C (p.Met225Thr)	rs119450945

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