List of variants in gene HARS2 reported as uncertain significance for Perrault syndrome

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_012208.4(HARS2):c.1254G>C (p.Gln418His)	rs138090816	0.00015
NM_012208.4(HARS2):c.1320G>T (p.Glu440Asp)	rs1429114032
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala)	rs748402163
NM_012208.4(HARS2):c.1450_1451delinsC (p.Ser484fs)
NM_012208.4(HARS2):c.1462-3C>T
NM_012208.4(HARS2):c.322T>C (p.Tyr108His)	rs2149852638
NM_012208.4(HARS2):c.489dup (p.Ile164fs)	rs781549967

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