List of variants reported as uncertain significance for Methylmalonic aciduria and homocystinuria type cblD

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

Total variants: 67

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	rs141093638	0.00181
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)	rs147370143	0.00117
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)	rs146795035	0.00063
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)	rs113390214	0.00055
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)	rs61755260	0.00029
NM_015702.3(MMADHC):c.-60G>A	rs886054923	0.00013
NM_015702.3(MMADHC):c.10-9C>G	rs376032730	0.00013
NM_015702.3(MMADHC):c.-16A>G	rs144111552	0.00009
NM_015702.3(MMADHC):c.*241A>G	rs528409808	0.00006
NM_015702.3(MMADHC):c.254A>G (p.Asn85Ser)	rs767542742	0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)	rs147318949	0.00006
NM_015702.3(MMADHC):c.696+13C>A	rs199528296	0.00004
NM_015702.3(MMADHC):c.*267T>C	rs546054980	0.00003
NM_015702.3(MMADHC):c.364G>A (p.Glu122Lys)	rs777544556	0.00002
NM_015702.3(MMADHC):c.373G>C (p.Gly125Arg)	rs760971849	0.00002
NM_015702.3(MMADHC):c.697-3C>T	rs770272562	0.00002
NM_015702.3(MMADHC):c.743G>A (p.Arg248His)	rs756858861	0.00002
NM_015702.3(MMADHC):c.800A>G (p.His267Arg)	rs753424109	0.00002
NM_015702.3(MMADHC):c.127C>T (p.His43Tyr)	rs775175927	0.00001
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)	rs755472574	0.00001
NM_015702.3(MMADHC):c.155-3C>T	rs773403678	0.00001
NM_015702.3(MMADHC):c.244T>G (p.Cys82Gly)	rs760590651	0.00001
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)	rs1345924349	0.00001
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)	rs756550492	0.00001
NM_015702.3(MMADHC):c.434G>C (p.Arg145Thr)	rs780889876	0.00001
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)	rs544727246	0.00001
NM_015702.3(MMADHC):c.80A>G (p.Asn27Ser)	rs766017009	0.00001
NM_015702.3(MMADHC):c.-136G>C	rs1682898571
NM_015702.3(MMADHC):c.-52-3C>G	rs886054922
NM_015702.3(MMADHC):c.-62G>A	rs886054924
NM_015702.3(MMADHC):c.10-3T>C	rs886054921
NM_015702.3(MMADHC):c.113G>T (p.Gly38Val)
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)	rs749521854
NM_015702.3(MMADHC):c.149A>G (p.Asp50Gly)
NM_015702.3(MMADHC):c.166G>A (p.Val56Met)	rs1682767724
NM_015702.3(MMADHC):c.172C>G (p.Pro58Ala)
NM_015702.3(MMADHC):c.184A>G (p.Met62Val)
NM_015702.3(MMADHC):c.196G>A (p.Gly66Arg)	rs1334273037
NM_015702.3(MMADHC):c.245G>A (p.Cys82Tyr)
NM_015702.3(MMADHC):c.299C>T (p.Pro100Leu)
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)	rs533388008
NM_015702.3(MMADHC):c.329A>G (p.Glu110Gly)
NM_015702.3(MMADHC):c.362A>G (p.Asn121Ser)
NM_015702.3(MMADHC):c.373-5C>A
NM_015702.3(MMADHC):c.440A>T (p.Glu147Val)	rs768142805
NM_015702.3(MMADHC):c.461C>G (p.Pro154Arg)	rs1226772166
NM_015702.3(MMADHC):c.481T>A (p.Phe161Ile)
NM_015702.3(MMADHC):c.562G>A (p.Val188Ile)
NM_015702.3(MMADHC):c.572AAG[1] (p.Glu192del)
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu)	rs1553453961
NM_015702.3(MMADHC):c.609+6T>C	rs1682704400
NM_015702.3(MMADHC):c.699T>C (p.Phe233=)	rs1682618008
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)	rs1682617973
NM_015702.3(MMADHC):c.724C>G (p.Leu242Val)
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)	rs530553915
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)	rs1408840913
NM_015702.3(MMADHC):c.73G>C (p.Val25Leu)	rs549522925
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)	rs549522925
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)	rs886054920
NM_015702.3(MMADHC):c.764C>G (p.Ser255Cys)	rs773493767
NM_015702.3(MMADHC):c.764_765del (p.Ser255fs)	rs2105041468
NM_015702.3(MMADHC):c.766G>C (p.Val256Leu)
NM_015702.3(MMADHC):c.787A>T (p.Lys263Ter)
NM_015702.3(MMADHC):c.808T>C (p.Trp270Arg)	rs2105041421
NM_015702.3(MMADHC):c.835A>G (p.Ile279Val)
NM_015702.3(MMADHC):c.857A>C (p.Asp286Ala)
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)	rs1401528755

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.