ClinVar Miner

List of variants reported as likely pathogenic for Sengers syndrome; Cataract 38

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000007.13:g.(?_141292926)_(141293005_?)dup
NM_018238.4(AGK):c.1047-2A>T rs886041491
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)
NM_018238.4(AGK):c.519-1G>A
NM_018238.4(AGK):c.519-2A>G

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