List of variants reported as benign for Methylcobalamin deficiency type cblE by Labcorp Genetics (formerly Invitae), Labcorp

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: 42

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)	rs1801394	0.44947
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)	rs1532268	0.31601
NM_002454.3(MTRR):c.1911G>A (p.Ala637=)	rs1802059	0.31218
NM_002454.3(MTRR):c.537T>C (p.Leu179=)	rs161870	0.20980
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)	rs162036	0.20973
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr)	rs10380	0.18188
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys)	rs2287780	0.04230
NM_002454.3(MTRR):c.1155G>A (p.Leu385=)	rs2287779	0.04224
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg)	rs16879334	0.03856
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr)	rs2303080	0.03048
NM_002454.3(MTRR):c.1676+20A>G	rs2303082	0.03042
NM_002454.3(MTRR):c.1536C>T (p.Ser512=)	rs34172797	0.01824
NM_002454.3(MTRR):c.1464A>G (p.Val488=)	rs35890938	0.01708
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=)	rs6874544	0.01706
NM_002454.3(MTRR):c.1370+19G>A	rs113005255	0.01540
NM_002454.3(MTRR):c.1653G>A (p.Pro551=)	rs139206262	0.00700
NM_002454.3(MTRR):c.288C>T (p.Leu96=)	rs35587995	0.00500
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala)	rs41283145	0.00414
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile)	rs114259126	0.00366
NM_002454.3(MTRR):c.876C>T (p.Thr292=)	rs144724549	0.00341
NM_002454.3(MTRR):c.210C>G (p.Arg70=)	rs41282641	0.00303
NM_002454.3(MTRR):c.177C>G (p.Thr59=)	rs142098262	0.00147
NM_002454.3(MTRR):c.144C>T (p.Thr48=)	rs138612190	0.00120
NM_002454.3(MTRR):c.828G>A (p.Val276=)	rs115289458	0.00120
NM_002454.3(MTRR):c.781-14A>G	rs112996747	0.00104
NM_002454.3(MTRR):c.879T>C (p.Thr293=)	rs773629167	0.00058
NM_002454.3(MTRR):c.540G>A (p.Val180=)	rs149037732	0.00046
NM_002454.3(MTRR):c.463A>C (p.Arg155=)	rs556611332	0.00016
NM_002454.3(MTRR):c.1020C>T (p.Cys340=)	rs201348649	0.00010
NM_002454.3(MTRR):c.246G>C (p.Pro82=)	rs149300444	0.00003
NM_002454.3(MTRR):c.780+20T>C	rs563392085	0.00001
NM_002454.3(MTRR):c.-26+755C>A	rs326119
NM_002454.3(MTRR):c.1146+10del	rs750264866
NM_002454.3(MTRR):c.1147-14G>A	rs9282791
NM_002454.3(MTRR):c.1676+15dup
NM_002454.3(MTRR):c.1677-9del	rs746262908
NM_002454.3(MTRR):c.1677-9dup	rs746262908
NM_002454.3(MTRR):c.1875G>A (p.Val625=)	rs12347
NM_002454.3(MTRR):c.283+9CT[3]	rs1341998318
NM_002454.3(MTRR):c.904-20T>C
NM_002454.3(MTRR):c.904-20_904-19insTC	rs1554003809
NM_002454.3(MTRR):c.997C>G (p.Leu333Val)	rs10064631

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.