List of variants in gene combination HARS1, LOC129994848 reported as uncertain significance for autosomal recessive disease

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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: 19

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HGVS	dbSNP	gnomAD frequency
NM_002109.6(HARS1):c.52G>A (p.Val18Met)	rs774632798	0.00006
NM_002109.6(HARS1):c.88C>A (p.Leu30Met)	rs1247070065	0.00004
NM_002109.6(HARS1):c.17C>G (p.Ala6Gly)	rs1461976080	0.00001
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe)	rs762976181	0.00001
NM_002109.6(HARS1):c.90+4A>C	rs776405841	0.00001
NM_002109.6(HARS1):c.28C>G (p.Leu10Val)
NM_002109.6(HARS1):c.2T>C (p.Met1Thr)	rs1759420438
NM_002109.6(HARS1):c.43G>A (p.Gly15Arg)	rs1394473077
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr)	rs1759420210
NM_002109.6(HARS1):c.4del (p.Ala2fs)
NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)	rs1759411593
NM_002109.6(HARS1):c.74A>G (p.Lys25Arg)
NM_002109.6(HARS1):c.80G>A (p.Ser27Asn)
NM_002109.6(HARS1):c.86A>T (p.Glu29Val)
NM_002109.6(HARS1):c.90+1G>A
NM_002109.6(HARS1):c.90+1G>C	rs1554109203
NM_002109.6(HARS1):c.90+3G>A	rs1759409258
NM_002109.6(HARS1):c.90+5G>A	rs768353479

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