ClinVar Miner

List of variants studied for Amelocerebrohypohidrotic syndrome by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.532-2A>T rs786205119

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