List of variants in gene ALAS2 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000032.5(ALAS2):c.1093T>C (p.Tyr365His)	rs863223902
NM_000032.5(ALAS2):c.1136T>C (p.Met379Thr)	rs863223903
NM_000032.5(ALAS2):c.1160G>C (p.Gly387Ala)	rs1057522832
NM_000032.5(ALAS2):c.1355G>T (p.Arg452Leu)
NM_000032.5(ALAS2):c.1513A>G (p.Asn505Asp)
NM_000032.5(ALAS2):c.1584del (p.Met528fs)
NM_000032.5(ALAS2):c.1646_1664dup (p.Cys555Ter)
NM_000032.5(ALAS2):c.1676G>C (p.Arg559Pro)	rs145704441
NM_000032.5(ALAS2):c.488G>A (p.Arg163His)	rs2146722839
NM_000032.5(ALAS2):c.508C>T (p.Arg170Cys)	rs1557248142
NM_000032.5(ALAS2):c.638+1G>A	rs2146722676

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