ClinVar Miner

List of variants reported as uncertain significance for 3-hydroxy-3-methylglutaric aciduria by Invitae

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 88
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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.208G>C (p.Val70Leu) rs121964996 0.00003
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.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.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)

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