List of variants studied for classic organic aciduria by GenomeConnect, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn)	rs140806722	0.00262
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)	rs200483477	0.00072
NM_001370658.1(BTD):c.68A>G (p.His23Arg)	rs146011150	0.00042
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	rs104893851	0.00017
NM_014384.3(ACAD8):c.1129G>A (p.Gly377Ser)	rs121908419	0.00016
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser)	rs142867987	0.00015
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)	rs138023744	0.00006
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)	rs980145400	0.00006
NM_001017989.3(OPA3):c.481G>A (p.Ala161Thr)	rs1445523438	0.00001
NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)	rs777359703
NM_025136.4(OPA3):c.55G>A (p.Val19Ile)	rs1343690502
NM_032861.4(SERAC1):c.443G>T (p.Arg148Leu)	rs376922578
NM_145261.4(DNAJC19):c.63C>G (p.Tyr21Ter)	rs145786060

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.