Variants in gene ARSA with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 17

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HGVS	dbSNP	gnomAD frequency
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)	rs74315466	0.00010
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)	rs199476391	0.00004
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	rs74315459	0.00003
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)	rs6151411	0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)	rs398123419	0.00002
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)	rs199476376	0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)	rs199476388	0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)	rs527640350	0.00001
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)	rs199476386	0.00001
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)	rs199476392
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)	rs74315462
NM_000487.6(ARSA):c.418C>G (p.His140Asp)	rs199476358
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)	rs199476387
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)	rs199476359
NM_000487.6(ARSA):c.922T>C (p.Tyr308His)	rs199476379
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)	rs199476356
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)	rs199476368

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