ClinVar Miner

List of variants reported as likely pathogenic for Amelocerebrohypohidrotic syndrome by Invitae

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.645+2T>A rs754417953 0.00001
NM_024589.3(ROGDI):c.118-2A>G rs1060502981
NM_024589.3(ROGDI):c.201-1G>C rs1473111275
NM_024589.3(ROGDI):c.329_336+5del rs2082701593
NM_024589.3(ROGDI):c.337-2A>G rs774701696
NM_024589.3(ROGDI):c.45+9_45+20del rs772340154

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