List of variants reported as likely pathogenic by Dept. of Evolution and Genomic Sciences, University of Manchester

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_014672.4(PRORP):c.1334G>A (p.Arg445Gln)	rs777185638	0.00004
NM_012208.4(HARS2):c.413G>A (p.Arg138His)	rs1432653451	0.00001
NM_012208.4(HARS2):c.1439G>A (p.Arg480His)	rs200089613
NM_012208.4(HARS2):c.72C>A (p.Cys24Ter)	rs1581536078
NM_012208.4(HARS2):c.828delinsGTATCCCTAGTATTTCTACTA (p.Gly276_Gly277insTyrProTer)	rs1581550832
NM_014672.4(PRORP):c.1197dup (p.Ser400fs)	rs764714439
NM_014672.4(PRORP):c.1454C>T (p.Ala485Val)	rs1169927428

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