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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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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.645+2T>A	rs754417953	0.00001
NM_024589.3(ROGDI):c.118-2A>C
NM_024589.3(ROGDI):c.118-2A>G	rs1060502981
NM_024589.3(ROGDI):c.201-1G>C	rs1473111275
NM_024589.3(ROGDI):c.319_336+64del
NM_024589.3(ROGDI):c.329_336+5del	rs2082701593
NM_024589.3(ROGDI):c.337-2A>G	rs774701696
NM_024589.3(ROGDI):c.432+1dup	rs2082694047
NM_024589.3(ROGDI):c.45+9_45+20del	rs772340154
NM_024589.3(ROGDI):c.46-2A>G
NM_024589.3(ROGDI):c.506_507dup (p.Glu170fs)	rs786205124
NM_024589.3(ROGDI):c.532-2A>G
NM_024589.3(ROGDI):c.645+1G>T
NM_024589.3(ROGDI):c.646-2_649del

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