List of variants in gene CARS1 reported as pathogenic for microcephaly, developmental delay, and brittle hair syndrome

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001014437.3(CARS1):c.1271G>A (p.Arg424His)	rs777861752	0.00001
NM_001014437.3(CARS1):c.1325C>T (p.Ser442Leu)	rs764965330	0.00001
NM_001014437.3(CARS1):c.1387C>T (p.Gln463Ter)	rs757978333	0.00001
NM_001014437.3(CARS1):c.1448T>A (p.Leu483Gln)	rs1851281486
NM_001014437.3(CARS1):c.2310dup (p.Ser771fs)	rs753057519
NM_001014437.3(CARS1):c.234_237delinsCAAAGGAGCTTT (p.Ser79fs)

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