ClinVar Miner

List of variants reported as pathogenic for Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_002161.6(IARS1):c.213T>G (p.Tyr71Ter) rs765771535 0.00003
NM_002161.6(IARS1):c.1252C>T (p.Arg418Ter) rs764500338 0.00001
NM_002161.6(IARS1):c.2215C>T (p.Arg739Cys) rs747311061 0.00001
NM_002161.6(IARS1):c.760C>T (p.Arg254Ter) rs886037875 0.00001
NM_002161.6(IARS1):c.1109T>G (p.Val370Gly) rs886037876
NM_002161.6(IARS1):c.1310C>T (p.Pro437Leu) rs886037874
NM_002161.6(IARS1):c.1667T>C (p.Phe556Ser) rs1554728327
NM_002161.6(IARS1):c.2974A>G (p.Asn992Asp) rs886037877
NM_002161.6(IARS1):c.3521T>A (p.Ile1174Asn) rs886037873
NM_002161.6(IARS1):c.632del (p.Pro211fs)

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