ClinVar Miner

List of variants reported as likely benign for Deficiency of hydroxymethylglutaryl-CoA lyase

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 257
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HGVS dbSNP gnomAD frequency
NM_001008216.2(GALE):c.-77+311C>T rs113324056 0.03995
NM_000191.2(HMGCL):c.-59A>C rs188188846 0.00929
NM_000191.3(HMGCL):c.*194C>G rs192071003 0.00530
NM_000191.3(HMGCL):c.61-17C>T rs56913973 0.00337
NM_000191.3(HMGCL):c.663C>T (p.Val221=) rs143884026 0.00064
NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg) rs192833530 0.00043
NM_000191.3(HMGCL):c.604C>T (p.Leu202=) rs146602259 0.00029
NM_000191.3(HMGCL):c.145-8C>T rs369286537 0.00016
NM_000191.3(HMGCL):c.375C>T (p.Val125=) rs139102957 0.00009
NM_000191.3(HMGCL):c.498-10C>A rs373505626 0.00009
NM_000191.3(HMGCL):c.*289G>T rs369514739 0.00008
NM_000191.3(HMGCL):c.882G>A (p.Val294=) rs1370242689 0.00006
NM_000191.3(HMGCL):c.561+8C>G rs372648949 0.00005
NM_000191.3(HMGCL):c.720A>G (p.Gln240=) rs911190800 0.00005
NM_000191.3(HMGCL):c.145-13C>T rs762224192 0.00004
NM_000191.3(HMGCL):c.717T>G (p.Gly239=) rs370708710 0.00004
NM_000191.3(HMGCL):c.453C>T (p.Asp151=) rs148943423 0.00003
NM_000191.3(HMGCL):c.60+18C>T rs1012054316 0.00003
NM_000191.3(HMGCL):c.6A>G (p.Ala2=) rs375969301 0.00003
NM_000191.3(HMGCL):c.774T>C (p.Ser258=) rs568796561 0.00003
NM_000191.3(HMGCL):c.165G>A (p.Val55=) rs1173716795 0.00002
NM_000191.3(HMGCL):c.168A>G (p.Lys56=) rs1291707271 0.00002
NM_000191.3(HMGCL):c.324A>G (p.Pro108=) rs932601140 0.00002
NM_000191.3(HMGCL):c.549T>A (p.Ala183=) rs61743700 0.00002
NM_000191.3(HMGCL):c.564C>G (p.Val188=) rs779911061 0.00002
NM_000191.3(HMGCL):c.636G>A (p.Gly212=) rs1471029861 0.00002
NM_000191.3(HMGCL):c.804C>T (p.Tyr268=) rs765198174 0.00002
NM_000191.3(HMGCL):c.828G>A (p.Leu276=) rs771024022 0.00002
NM_000191.3(HMGCL):c.843G>A (p.Leu281=) rs773635833 0.00002
NM_000191.3(HMGCL):c.877-16A>G rs763250288 0.00002
NM_000191.3(HMGCL):c.877-7C>T rs750545040 0.00002
NM_000191.3(HMGCL):c.141A>G (p.Glu47=) rs776280224 0.00001
NM_000191.3(HMGCL):c.145-4A>G rs963436984 0.00001
NM_000191.3(HMGCL):c.159T>A (p.Thr53=) rs1638634324 0.00001
NM_000191.3(HMGCL):c.252+17A>G rs773700977 0.00001
NM_000191.3(HMGCL):c.27G>T (p.Pro9=) rs1337954372 0.00001
NM_000191.3(HMGCL):c.30G>A (p.Arg10=) rs1284448239 0.00001
NM_000191.3(HMGCL):c.339C>T (p.Phe113=) rs112352538 0.00001
NM_000191.3(HMGCL):c.345A>C (p.Ala115=) rs761706911 0.00001
NM_000191.3(HMGCL):c.348+7G>A rs746088233 0.00001
NM_000191.3(HMGCL):c.349-10A>T rs755304948 0.00001
NM_000191.3(HMGCL):c.390C>T (p.Ala130=) rs141872588 0.00001
NM_000191.3(HMGCL):c.399C>T (p.Leu133=) rs760474502 0.00001
NM_000191.3(HMGCL):c.441T>C (p.Phe147=) rs777819749 0.00001
NM_000191.3(HMGCL):c.471G>A (p.Ala157=) rs758118156 0.00001
NM_000191.3(HMGCL):c.477A>C (p.Ser159=) rs1304272931 0.00001
NM_000191.3(HMGCL):c.498-14_498-13del rs753940756 0.00001
NM_000191.3(HMGCL):c.498-7C>T rs764007608 0.00001
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529 0.00001
NM_000191.3(HMGCL):c.561+20C>T rs781059597 0.00001
NM_000191.3(HMGCL):c.561+7G>A rs773091131 0.00001
NM_000191.3(HMGCL):c.60+7G>A rs368461149 0.00001
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373 0.00001
NM_000191.3(HMGCL):c.687C>T (p.Ala229=) rs1638447338 0.00001
NM_000191.3(HMGCL):c.711C>T (p.Thr237=) rs754976763 0.00001
NM_000191.3(HMGCL):c.735C>A (p.Thr245=) rs202074025 0.00001
NM_000191.3(HMGCL):c.750+8A>G rs771868826 0.00001
NM_000191.3(HMGCL):c.762T>C (p.Ser254=) rs983682054 0.00001
NM_000191.3(HMGCL):c.816A>T (p.Ala272=) rs141340718 0.00001
NM_000191.3(HMGCL):c.825C>T (p.Asn275=) rs1287973337 0.00001
NM_000191.3(HMGCL):c.84T>C (p.Thr28=) rs752969194 0.00001
NM_000191.3(HMGCL):c.858G>A (p.Glu286=) rs376715568 0.00001
NM_000191.3(HMGCL):c.876+20G>A rs749917434 0.00001
NM_000191.3(HMGCL):c.90A>G (p.Pro30=) rs767787302 0.00001
NM_000191.3(HMGCL):c.921T>C (p.Cys307=) rs777324642 0.00001
NM_000191.3(HMGCL):c.977G>A (p.Ter326=) rs1303767209 0.00001
NM_000191.3(HMGCL):c.102A>G (p.Lys34=)
NM_000191.3(HMGCL):c.108G>C (p.Val36=)
NM_000191.3(HMGCL):c.121C>A (p.Arg41=)
NM_000191.3(HMGCL):c.123A>T (p.Arg41=) rs2148425859
NM_000191.3(HMGCL):c.130C>T (p.Leu44=)
NM_000191.3(HMGCL):c.144+15G>T
NM_000191.3(HMGCL):c.144+16A>G
NM_000191.3(HMGCL):c.144+18C>G
NM_000191.3(HMGCL):c.144+20A>C
NM_000191.3(HMGCL):c.144+8T>G rs2148425829
NM_000191.3(HMGCL):c.145-11C>G
NM_000191.3(HMGCL):c.145-16TC[3] rs2148424266
NM_000191.3(HMGCL):c.145-19G>A
NM_000191.3(HMGCL):c.145-5T>A
NM_000191.3(HMGCL):c.145-6C>T rs2148424258
NM_000191.3(HMGCL):c.145-7A>C
NM_000191.3(HMGCL):c.145-7A>G
NM_000191.3(HMGCL):c.145-9C>T
NM_000191.3(HMGCL):c.150C>A (p.Ile50=) rs376705029
NM_000191.3(HMGCL):c.153A>G (p.Val51=)
NM_000191.3(HMGCL):c.171C>T (p.Ile57=) rs2148424231
NM_000191.3(HMGCL):c.174G>A (p.Lys58=) rs2148424227
NM_000191.3(HMGCL):c.177G>T (p.Leu59=) rs1375512664
NM_000191.3(HMGCL):c.183C>T (p.Asp61=) rs755922538
NM_000191.3(HMGCL):c.189T>C (p.Leu63=)
NM_000191.3(HMGCL):c.195A>G (p.Glu65=) rs2148424193
NM_000191.3(HMGCL):c.201A>G (p.Gly67=)
NM_000191.3(HMGCL):c.21G>A (p.Ala7=) rs751528960
NM_000191.3(HMGCL):c.21G>T (p.Ala7=)
NM_000191.3(HMGCL):c.225C>T (p.Ser75=) rs1357942068
NM_000191.3(HMGCL):c.231G>A (p.Val77=)
NM_000191.3(HMGCL):c.24T>C (p.Leu8=) rs2148428459
NM_000191.3(HMGCL):c.252+10A>G
NM_000191.3(HMGCL):c.252+10A>T rs1194729820
NM_000191.3(HMGCL):c.252+12C>A
NM_000191.3(HMGCL):c.252+14C>T
NM_000191.3(HMGCL):c.252+18A>G
NM_000191.3(HMGCL):c.252+19T>C
NM_000191.3(HMGCL):c.252+8C>G
NM_000191.3(HMGCL):c.253-18G>A
NM_000191.3(HMGCL):c.253-5C>T
NM_000191.3(HMGCL):c.253-7T>C rs1391681111
NM_000191.3(HMGCL):c.274T>C (p.Leu92=)
NM_000191.3(HMGCL):c.27G>C (p.Pro9=)
NM_000191.3(HMGCL):c.315C>G (p.Val105=)
NM_000191.3(HMGCL):c.321C>A (p.Thr107=)
NM_000191.3(HMGCL):c.336C>A (p.Gly112=)
NM_000191.3(HMGCL):c.336C>G (p.Gly112=)
NM_000191.3(HMGCL):c.33A>G (p.Arg11=) rs2148428444
NM_000191.3(HMGCL):c.33A>T (p.Arg11=)
NM_000191.3(HMGCL):c.348+13C>G
NM_000191.3(HMGCL):c.348+14T>G
NM_000191.3(HMGCL):c.348+17_348+19del
NM_000191.3(HMGCL):c.348+20G>A
NM_000191.3(HMGCL):c.348+7_348+9dup
NM_000191.3(HMGCL):c.349-10A>G rs755304948
NM_000191.3(HMGCL):c.349-15C>T
NM_000191.3(HMGCL):c.349-17C>G
NM_000191.3(HMGCL):c.349-19T>A
NM_000191.3(HMGCL):c.349-4G>A
NM_000191.3(HMGCL):c.349-8G>T rs770814366
NM_000191.3(HMGCL):c.34C>T (p.Leu12=) rs2148428443
NM_000191.3(HMGCL):c.357T>A (p.Ala119=) rs2148422516
NM_000191.3(HMGCL):c.360A>T (p.Gly120=)
NM_000191.3(HMGCL):c.378C>T (p.Ile126=) rs2148422513
NM_000191.3(HMGCL):c.402C>T (p.Phe134=) rs11551767
NM_000191.3(HMGCL):c.405C>G (p.Thr135=)
NM_000191.3(HMGCL):c.408G>A (p.Lys136=)
NM_000191.3(HMGCL):c.411G>A (p.Lys137=)
NM_000191.3(HMGCL):c.414C>T (p.Asn138=)
NM_000191.3(HMGCL):c.423T>C (p.Cys141=) rs2148422474
NM_000191.3(HMGCL):c.42C>T (p.Gly14=) rs1638799252
NM_000191.3(HMGCL):c.456A>G (p.Ala152=) rs2148422453
NM_000191.3(HMGCL):c.460C>T (p.Leu154=) rs2148422448
NM_000191.3(HMGCL):c.468A>G (p.Ala156=) rs1017877874
NM_000191.3(HMGCL):c.471G>T (p.Ala157=)
NM_000191.3(HMGCL):c.48G>C (p.Ala16=) rs115611440
NM_000191.3(HMGCL):c.497+10A>G
NM_000191.3(HMGCL):c.497+13A>G
NM_000191.3(HMGCL):c.497+20T>A
NM_000191.3(HMGCL):c.498-12G>A
NM_000191.3(HMGCL):c.498-12G>C
NM_000191.3(HMGCL):c.498-15C>T
NM_000191.3(HMGCL):c.498-16C>T
NM_000191.3(HMGCL):c.513T>C (p.Ala171=)
NM_000191.3(HMGCL):c.519C>T (p.Gly173=)
NM_000191.3(HMGCL):c.51C>A (p.Ser17=)
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.54C>G (p.Leu18=)
NM_000191.3(HMGCL):c.54C>T (p.Leu18=)
NM_000191.3(HMGCL):c.558T>A (p.Ala186=) rs1638505746
NM_000191.3(HMGCL):c.561+13G>A rs755556712
NM_000191.3(HMGCL):c.561+15C>A
NM_000191.3(HMGCL):c.561+19G>A rs1239783360
NM_000191.3(HMGCL):c.561+20_561+23del
NM_000191.3(HMGCL):c.561+7G>C
NM_000191.3(HMGCL):c.561+9A>G
NM_000191.3(HMGCL):c.562-12T>C
NM_000191.3(HMGCL):c.562-14G>A
NM_000191.3(HMGCL):c.562-14G>C rs751368427
NM_000191.3(HMGCL):c.562-16C>T
NM_000191.3(HMGCL):c.562-18G>A
NM_000191.3(HMGCL):c.562-20G>C
NM_000191.3(HMGCL):c.562-8T>C rs2148419215
NM_000191.3(HMGCL):c.564C>A (p.Val188=)
NM_000191.3(HMGCL):c.597G>A (p.Glu199=) rs2148419180
NM_000191.3(HMGCL):c.60+10C>T
NM_000191.3(HMGCL):c.60+12G>T
NM_000191.3(HMGCL):c.60+20G>A
NM_000191.3(HMGCL):c.60+7G>C
NM_000191.3(HMGCL):c.60+7G>T rs368461149
NM_000191.3(HMGCL):c.60+8C>A
NM_000191.3(HMGCL):c.61-11T>C
NM_000191.3(HMGCL):c.61-13T>C
NM_000191.3(HMGCL):c.61-14C>T
NM_000191.3(HMGCL):c.61-16C>T
NM_000191.3(HMGCL):c.61-4A>G
NM_000191.3(HMGCL):c.621T>G (p.Gly207=) rs1638449170
NM_000191.3(HMGCL):c.627C>A (p.Gly209=)
NM_000191.3(HMGCL):c.627C>T (p.Gly209=)
NM_000191.3(HMGCL):c.630C>T (p.Thr210=) rs886046313
NM_000191.3(HMGCL):c.652C>T (p.Leu218=) rs779813777
NM_000191.3(HMGCL):c.657T>C (p.Ser219=)
NM_000191.3(HMGCL):c.663C>G (p.Val221=) rs143884026
NM_000191.3(HMGCL):c.675G>A (p.Val225=) rs1266803426
NM_000191.3(HMGCL):c.675G>C (p.Val225=)
NM_000191.3(HMGCL):c.687C>A (p.Ala229=) rs1638447338
NM_000191.3(HMGCL):c.699C>T (p.His233=)
NM_000191.3(HMGCL):c.6A>T (p.Ala2=) rs375969301
NM_000191.3(HMGCL):c.708C>T (p.Asp236=) rs886046312
NM_000191.3(HMGCL):c.711C>G (p.Thr237=)
NM_000191.3(HMGCL):c.714T>C (p.Tyr238=)
NM_000191.3(HMGCL):c.724C>T (p.Leu242=)
NM_000191.3(HMGCL):c.72A>C (p.Ser24=) rs2148425901
NM_000191.3(HMGCL):c.72A>G (p.Ser24=) rs2148425901
NM_000191.3(HMGCL):c.732C>T (p.Asn244=)
NM_000191.3(HMGCL):c.735C>G (p.Thr245=) rs202074025
NM_000191.3(HMGCL):c.735C>T (p.Thr245=)
NM_000191.3(HMGCL):c.736T>C (p.Leu246=) rs143823689
NM_000191.3(HMGCL):c.745C>T (p.Leu249=)
NM_000191.3(HMGCL):c.750+14T>A rs778868742
NM_000191.3(HMGCL):c.750+14T>C
NM_000191.3(HMGCL):c.750+14del
NM_000191.3(HMGCL):c.750+18C>T
NM_000191.3(HMGCL):c.750+19C>T
NM_000191.3(HMGCL):c.751-10A>G
NM_000191.3(HMGCL):c.751-11T>C
NM_000191.3(HMGCL):c.751-12T>A
NM_000191.3(HMGCL):c.751-13C>G
NM_000191.3(HMGCL):c.751-15T>A
NM_000191.3(HMGCL):c.751-17C>T
NM_000191.3(HMGCL):c.751-4C>T
NM_000191.3(HMGCL):c.751-7T>C
NM_000191.3(HMGCL):c.751-8G>A
NM_000191.3(HMGCL):c.751-9T>C
NM_000191.3(HMGCL):c.759G>A (p.Val253=) rs1570642400
NM_000191.3(HMGCL):c.765C>A (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>G (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.765C>T (p.Val255=) rs778296169
NM_000191.3(HMGCL):c.771C>T (p.Asp257=) rs1300668281
NM_000191.3(HMGCL):c.795C>G (p.Gly265=) rs1488079271
NM_000191.3(HMGCL):c.795C>T (p.Gly265=) rs1488079271
NM_000191.3(HMGCL):c.801C>T (p.Pro267=)
NM_000191.3(HMGCL):c.810G>A (p.Gln270=)
NM_000191.3(HMGCL):c.826T>C (p.Leu276=) rs2148416982
NM_000191.3(HMGCL):c.840C>T (p.Asp280=)
NM_000191.3(HMGCL):c.841C>T (p.Leu281=) rs1638363122
NM_000191.3(HMGCL):c.846C>T (p.Val282=) rs2148416963
NM_000191.3(HMGCL):c.849C>T (p.Tyr283=)
NM_000191.3(HMGCL):c.862T>C (p.Leu288=)
NM_000191.3(HMGCL):c.876+14C>A
NM_000191.3(HMGCL):c.876+17C>G
NM_000191.3(HMGCL):c.876+19del
NM_000191.3(HMGCL):c.876+5_876+8dup rs1261907415
NM_000191.3(HMGCL):c.876+7C>A
NM_000191.3(HMGCL):c.876+9A>G
NM_000191.3(HMGCL):c.877-11G>T
NM_000191.3(HMGCL):c.877-17T>C
NM_000191.3(HMGCL):c.877-17dup
NM_000191.3(HMGCL):c.888C>T (p.Leu296=)
NM_000191.3(HMGCL):c.894G>A (p.Lys298=)
NM_000191.3(HMGCL):c.897T>A (p.Leu299=) rs992734996
NM_000191.3(HMGCL):c.909A>G (p.Gly303=)
NM_000191.3(HMGCL):c.915T>C (p.Phe305=)
NM_000191.3(HMGCL):c.918C>T (p.Ile306=) rs2148415804
NM_000191.3(HMGCL):c.933C>T (p.Asn311=) rs1194563406
NM_000191.3(HMGCL):c.93G>A (p.Lys31=)
NM_000191.3(HMGCL):c.942T>A (p.Thr314=)
NM_000191.3(HMGCL):c.960G>A (p.Gln320=)
NM_000191.3(HMGCL):c.966C>G (p.Thr322=)
NM_000191.3(HMGCL):c.969T>C (p.Cys323=) rs2148415747

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