List of variants in gene ARSL reported as pathogenic for X-linked disease

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000047.3(ARSL):c.36G>C (p.Arg12Ser)	rs122460151	0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)	rs28935474	0.00001
NM_000047.3(ARSL):c.24-1G>A	rs762627146	0.00001
NC_000023.11:g.(?_2934812)_(2958455_?)del
NC_000023.11:g.(?_2934812)_(2960420_?)del
NM_000047.3(ARSL):c.1289+1G>A	rs2147349066
NM_000047.3(ARSL):c.1475G>A (p.Cys492Tyr)	rs122460155
NM_000047.3(ARSL):c.332G>C (p.Arg111Pro)	rs122460153
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg)	rs122460152
NM_000047.3(ARSL):c.410G>T (p.Gly137Val)	rs80338711
NM_000047.3(ARSL):c.733G>C (p.Gly245Arg)	rs122460154
NM_000047.3(ARSL):c.916A>G (p.Thr306Ala)

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