List of variants in gene HARS2 reported as likely pathogenic for Perrault syndrome 2

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_012208.4(HARS2):c.448C>T (p.Arg150Cys)	rs140540222	0.00009
NM_012208.4(HARS2):c.172A>G (p.Lys58Glu)	rs201392711	0.00007
NM_012208.4(HARS2):c.598C>G (p.Leu200Val)	rs397515410	0.00003
NM_012208.4(HARS2):c.259C>T (p.Arg87Cys)	rs754069818	0.00001
NM_012208.4(HARS2):c.1012G>A (p.Glu338Lys)
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu)	rs376177973
NM_012208.4(HARS2):c.1153_1165del (p.Ile385fs)
NM_012208.4(HARS2):c.1273C>T (p.Arg425Trp)
NM_012208.4(HARS2):c.137T>A (p.Leu46Gln)	rs1562047621
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala)	rs748402163
NM_012208.4(HARS2):c.281A>G (p.Asp94Gly)
NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys)	rs763261995
NM_012208.4(HARS2):c.399+1G>A	rs2149852789
NM_012208.4(HARS2):c.728A>C (p.Asp243Ala)
NM_012208.4(HARS2):c.980G>A (p.Arg327Gln)	rs778499309

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