List of variants in gene EPRS1 reported as pathogenic for Leukodystrophy, hypomyelinating, 15

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_004446.3(EPRS1):c.3478C>T (p.Pro1160Ser)	rs898824971	0.00003
NM_004446.3(EPRS1):c.1015C>T (p.Arg339Ter)	rs763737931	0.00001
NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg)	rs1288116010	0.00001
NM_004446.3(EPRS1):c.3377T>C (p.Met1126Thr)	rs1474000585
NM_004446.3(EPRS1):c.3667del (p.Thr1223fs)	rs1553318956

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