ClinVar Miner

List of variants studied for Glutaric acidemia IIc by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg)	rs746598421	0.00004
NM_004453.4(ETFDH):c.807A>C (p.Gln269His)	rs1265381182

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