List of variants in gene LOC126806368, MMADHC studied for Methylmalonic aciduria and homocystinuria type cblD

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015702.3(MMADHC):c.-49T>C	rs79997772	0.02222
NM_015702.3(MMADHC):c.-8C>T	rs180812156	0.00282
NM_015702.3(MMADHC):c.9+14C>T	rs140075619	0.00140
NM_015702.3(MMADHC):c.-16A>G	rs144111552	0.00009
NM_015702.3(MMADHC):c.9+12A>C	rs570608507	0.00001
NM_015702.3(MMADHC):c.-52-3C>G	rs886054922
NM_015702.3(MMADHC):c.9+12A>T
NM_015702.3(MMADHC):c.9+16C>T
NM_015702.3(MMADHC):c.9+17T>A	rs372601477
NM_015702.3(MMADHC):c.9+17T>G
NM_015702.3(MMADHC):c.9+18T>G	rs2105053453
NM_015702.3(MMADHC):c.9+19A>C
NM_015702.3(MMADHC):c.9+1G>A
NM_015702.3(MMADHC):c.9+5G>A

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.