ClinVar Miner

List of variants in gene ROGDI reported as pathogenic for Amelocerebrohypohidrotic syndrome

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.334C>T (p.Gln112Ter) rs372097881 0.00003
NM_024589.3(ROGDI):c.531+5G>C rs749657986 0.00003
NM_024589.3(ROGDI):c.117+1G>A rs570952151 0.00001
NM_024589.3(ROGDI):c.250C>T (p.Gln84Ter) rs2082712944 0.00001
NM_024589.3(ROGDI):c.469C>T (p.Arg157Ter) rs387907146 0.00001
NM_024589.3(ROGDI):c.52G>T (p.Glu18Ter) rs1221411185 0.00001
NM_024589.3(ROGDI):c.-3_45+8del
NM_024589.3(ROGDI):c.103C>T (p.Gln35Ter) rs2082742684
NM_024589.3(ROGDI):c.117+1G>T rs570952151
NM_024589.3(ROGDI):c.152dup (p.Thr52fs)
NM_024589.3(ROGDI):c.169A>T (p.Lys57Ter)
NM_024589.3(ROGDI):c.208C>T (p.Gln70Ter)
NM_024589.3(ROGDI):c.229_230del (p.Leu77fs) rs764899074
NM_024589.3(ROGDI):c.232C>T (p.Gln78Ter)
NM_024589.3(ROGDI):c.286C>T (p.Gln96Ter) rs387907145
NM_024589.3(ROGDI):c.302_308dup (p.Glu104fs) rs1596277148
NM_024589.3(ROGDI):c.331C>T (p.Gln111Ter)
NM_024589.3(ROGDI):c.340C>T (p.Gln114Ter) rs1555491350
NM_024589.3(ROGDI):c.402C>A (p.Tyr134Ter) rs919033318
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.506_507dup (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.507del (p.Glu170fs) rs786205124
NM_024589.3(ROGDI):c.532-2A>T rs786205119
NM_024589.3(ROGDI):c.581_593del (p.Ile194fs) rs2141906388
NM_024589.3(ROGDI):c.613C>T (p.Gln205Ter) rs780059442
NM_024589.3(ROGDI):c.652dup (p.Arg218fs) rs2141905980
NM_024589.3(ROGDI):c.665dup (p.Ala223fs) rs1039568775
NM_024589.3(ROGDI):c.715_718del (p.Leu239fs) rs2082670823

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