List of variants in gene IARS1 reported as uncertain significance for Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_002161.6(IARS1):c.3457T>C (p.Cys1153Arg)	rs141665010	0.00010
NM_002161.6(IARS1):c.296C>A (p.Thr99Lys)	rs780360619	0.00008
NM_002161.6(IARS1):c.2081G>A (p.Arg694Gln)	rs142411431	0.00007
NM_002161.6(IARS1):c.1531C>T (p.Arg511Cys)	rs371250371	0.00005
NM_002161.6(IARS1):c.1930G>A (p.Gly644Ser)	rs202209545	0.00003
NM_002161.6(IARS1):c.419G>A (p.Arg140Gln)	rs747654531	0.00002
NM_002161.6(IARS1):c.1358G>A (p.Arg453His)	rs570962385	0.00001
NM_002161.6(IARS1):c.1622C>T (p.Pro541Leu)	rs1286974333	0.00001
NM_002161.6(IARS1):c.2035C>A (p.Leu679Ile)	rs569119560	0.00001
NM_002161.6(IARS1):c.1456G>A (p.Glu486Lys)	rs1832164242
NM_002161.6(IARS1):c.2229+5G>A
NM_002161.6(IARS1):c.226G>A (p.Gly76Arg)	rs372859203
NM_002161.6(IARS1):c.2422C>G (p.Arg808Gly)
NM_002161.6(IARS1):c.276+5G>A	rs1835741921
NM_002161.6(IARS1):c.2806G>A (p.Glu936Lys)
NM_002161.6(IARS1):c.3005A>G (p.Asn1002Ser)
NM_002161.6(IARS1):c.3563T>C (p.Met1188Thr)
NM_002161.6(IARS1):c.3693G>C (p.Glu1231Asp)	rs757811684
NM_002161.6(IARS1):c.665C>G (p.Ala222Gly)	rs148530218

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