ClinVar Miner

List of variants reported as pathogenic for Obesity; Global developmental delay; Generalized epilepsy by Claritas Genomics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	rs375168720	0.00006
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)	rs121964976
NM_002693.3(POLG):c.1270_1271del (p.Leu424fs)	rs796052908

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