ClinVar Miner

List of variants studied for Amelocerebrohypohidrotic syndrome by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) rs387907146 0.00001
NM_024589.3(ROGDI):c.229_230del (p.Leu77fs) rs764899074
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) rs387907145
NM_024589.3(ROGDI):c.45+37_46-30del rs786205125
NM_024589.3(ROGDI):c.45+9_45+20del rs772340154
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.532-2A>T rs786205119

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