ClinVar Miner

List of variants in gene ROGDI reported as benign for amelocerebrohypohidrotic syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_024589.3(ROGDI):c.823-22A>G rs1982515 0.42702
NM_024589.3(ROGDI):c.*292C>T rs8118 0.40388
NM_024589.3(ROGDI):c.*144G>A rs7546 0.40047
NM_024589.3(ROGDI):c.414G>A (p.Thr138=) rs11553876 0.10521
NM_024589.3(ROGDI):c.822+17C>T rs111272920 0.02340
NM_024589.3(ROGDI):c.393C>G (p.Asp131Glu) rs143095485 0.01923
NM_024589.3(ROGDI):c.433-15C>T rs114103417 0.00806
NM_024589.3(ROGDI):c.696C>T (p.Phe232=) rs75818610 0.00686
NM_024589.3(ROGDI):c.646-5C>T rs115660765 0.00647
NM_024589.3(ROGDI):c.*270T>C rs76192577 0.00642
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_024589.3(ROGDI):c.45+19C>G rs546936996 0.00397
NM_024589.3(ROGDI):c.522C>T (p.Ser174=) rs150687774 0.00190
NM_024589.3(ROGDI):c.118-13C>G rs201794245 0.00137
NM_024589.3(ROGDI):c.783C>T (p.Phe261=) rs142481526 0.00075
NM_024589.3(ROGDI):c.243C>T (p.Ala81=) rs148051351 0.00073
NM_024589.3(ROGDI):c.432+13C>T rs371432203 0.00071
NM_024589.3(ROGDI):c.567G>A (p.Leu189=) rs143000899 0.00059
NM_024589.3(ROGDI):c.489C>T (p.Pro163=) rs113245789 0.00056
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_024589.3(ROGDI):c.696-8G>T rs3747609 0.00008
NM_024589.3(ROGDI):c.823-10C>T rs199642172 0.00007
NM_024589.3(ROGDI):c.417C>T (p.Gly139=) rs375517608 0.00001
NM_024589.3(ROGDI):c.678T>C (p.His226=) rs549672547 0.00001
NM_024589.2(ROGDI):c.-320C>G rs17137286
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024589.3(ROGDI):c.117+10C>T rs113858060
NM_024589.3(ROGDI):c.118-24_118-17del rs145700776
NM_024589.3(ROGDI):c.432+13dup rs2082693928
NM_024589.3(ROGDI):c.45+37_46-30del rs786205125
NM_024589.3(ROGDI):c.645+15del rs1356112429
NM_024589.3(ROGDI):c.786C>G (p.Thr262=) rs146812127

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