ClinVar Miner

List of variants studied for Amelocerebrohypohidrotic syndrome by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024589.3(ROGDI):c.117+1G>A	rs570952151	0.00001
NM_024589.3(ROGDI):c.795G>A (p.Leu265=)	rs749782882	0.00001
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter)	rs1555491350
NM_024589.3(ROGDI):c.531+5G>T	rs749657986

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