List of variants in gene ARSL reported as likely pathogenic for bone disorder

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg)	rs201424543	0.00049
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)	rs80338711	0.00009
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)	rs80338714	0.00003
NM_000047.3(ARSL):c.24-1G>A	rs762627146	0.00001
NM_000047.3(ARSL):c.337C>T (p.Leu113Phe)	rs145946864	0.00001
NM_000047.3(ARSL):c.949G>A (p.Gly317Arg)	rs1178912922	0.00001
NM_000047.3(ARSL):c.1219G>T (p.Glu407Ter)	rs1272438892
NM_000047.3(ARSL):c.1289+1G>A	rs2147349066
NM_000047.3(ARSL):c.185+1G>A	rs2147401174
NM_000047.3(ARSL):c.217G>A (p.Gly73Ser)	rs2147394157
NM_000047.3(ARSL):c.23+1G>C
NM_000047.3(ARSL):c.24-2A>G
NM_000047.3(ARSL):c.349G>A (p.Gly117Arg)	rs122460152
NM_000047.3(ARSL):c.430G>A (p.Gly144Arg)
NM_000047.3(ARSL):c.991+2T>C

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