List of variants reported as uncertain significance for Deficiency of hydroxymethylglutaryl-CoA lyase 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: 89

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)	rs148032473	0.00012
NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)	rs200955062	0.00011
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)	rs377359610	0.00011
NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)	rs538620811	0.00007
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)	rs142942001	0.00006
NM_000191.3(HMGCL):c.470C>T (p.Ala157Val)	rs147752765	0.00005
NM_000191.3(HMGCL):c.40G>C (p.Gly14Arg)	rs764292245	0.00004
NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)	rs368688262	0.00004
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)	rs777758512	0.00004
NM_000191.3(HMGCL):c.349-3C>A	rs777476731	0.00003
NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)	rs746968587	0.00003
NM_000191.3(HMGCL):c.94C>T (p.Arg32Trp)	rs759745527	0.00003
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)	rs373738626	0.00002
NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)	rs121964996	0.00002
NM_000191.3(HMGCL):c.374T>G (p.Val125Gly)	rs905961108	0.00002
NM_000191.3(HMGCL):c.409A>G (p.Lys137Glu)	rs377359510	0.00002
NM_000191.3(HMGCL):c.583A>G (p.Met195Val)	rs764360500	0.00002
NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser)	rs764926275	0.00002
NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)	rs761468576	0.00002
NM_000191.3(HMGCL):c.347C>T (p.Ala116Val)	rs368145582	0.00001
NM_000191.3(HMGCL):c.502G>A (p.Val168Ile)	rs759288306	0.00001
NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)	rs747529727	0.00001
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)	rs1303119110	0.00001
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)	rs990313450	0.00001
NM_000191.3(HMGCL):c.766G>A (p.Val256Met)	rs764238653	0.00001
NM_000191.3(HMGCL):c.800C>G (p.Pro267Arg)	rs750347526	0.00001
NM_000191.3(HMGCL):c.820G>A (p.Gly274Arg)	rs1391067821	0.00001
NC_000001.10:g.(?_19199339)_(24690861_?)dup
NM_000191.3(HMGCL):c.112G>T (p.Val38Phe)
NM_000191.3(HMGCL):c.12G>A (p.Met4Ile)
NM_000191.3(HMGCL):c.144+4A>G
NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp)
NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala)
NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu)
NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)
NM_000191.3(HMGCL):c.184A>T (p.Met62Leu)	rs373738626
NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe)
NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)	rs754437215
NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)	rs754437215
NM_000191.3(HMGCL):c.218C>A (p.Thr73Asn)	rs1570652345
NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe)
NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)	rs886046314
NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu)
NM_000191.3(HMGCL):c.2T>C (p.Met1Thr)	rs2148428492
NM_000191.3(HMGCL):c.322C>T (p.Pro108Ser)	rs2148423771
NM_000191.3(HMGCL):c.331A>G (p.Lys111Glu)	rs1638619737
NM_000191.3(HMGCL):c.348G>A (p.Ala116=)
NM_000191.3(HMGCL):c.386C>G (p.Ala129Gly)	rs1244160232
NM_000191.3(HMGCL):c.41G>T (p.Gly14Val)
NM_000191.3(HMGCL):c.436A>G (p.Ser146Gly)
NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser)
NM_000191.3(HMGCL):c.497+3G>A	rs763178392
NM_000191.3(HMGCL):c.540C>G (p.Ile180Met)	rs2148420690
NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro)
NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)
NM_000191.3(HMGCL):c.5C>T (p.Ala2Val)
NM_000191.3(HMGCL):c.60+6T>A
NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)	rs1553131940
NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)	rs1445870588
NM_000191.3(HMGCL):c.629C>T (p.Thr210Ile)	rs1570645382
NM_000191.3(HMGCL):c.649A>G (p.Met217Val)	rs767993106
NM_000191.3(HMGCL):c.661G>A (p.Val221Ile)	rs745624801
NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr)
NM_000191.3(HMGCL):c.686C>A (p.Ala229Asp)	rs752913892
NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)
NM_000191.3(HMGCL):c.721G>A (p.Ala241Thr)	rs763416473
NM_000191.3(HMGCL):c.743C>T (p.Ala248Val)
NM_000191.3(HMGCL):c.750+6C>T
NM_000191.3(HMGCL):c.751-10_751-9del	rs1638366878
NM_000191.3(HMGCL):c.751-3T>C	rs1356054021
NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly)
NM_000191.3(HMGCL):c.76A>T (p.Met26Leu)	rs756958205
NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser)
NM_000191.3(HMGCL):c.799C>T (p.Pro267Ser)	rs1220289416
NM_000191.3(HMGCL):c.800C>A (p.Pro267His)	rs750347526
NM_000191.3(HMGCL):c.806C>T (p.Ala269Val)
NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg)
NM_000191.3(HMGCL):c.814G>T (p.Ala272Ser)	rs1638363983
NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser)
NM_000191.3(HMGCL):c.841C>G (p.Leu281Val)	rs1638363122
NM_000191.3(HMGCL):c.866G>A (p.Gly289Asp)
NM_000191.3(HMGCL):c.875C>T (p.Thr292Met)	rs1638362250
NM_000191.3(HMGCL):c.876G>T (p.Thr292=)
NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala)
NM_000191.3(HMGCL):c.899T>C (p.Leu300Pro)	rs2148415814
NM_000191.3(HMGCL):c.89C>T (p.Pro30Leu)	rs1638700415
NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr)
NM_000191.3(HMGCL):c.945C>G (p.Ser315Arg)	rs1557484629
NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp)

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.