ClinVar Miner

List of variants reported as likely pathogenic for Glutaric aciduria, type 1 by Counsyl

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354 0.00018
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs) rs761491320 0.00004
NM_000159.4(GCDH):c.743C>T (p.Pro248Leu) rs1057516344 0.00003
NM_000159.4(GCDH):c.769C>T (p.Arg257Trp) rs766518430 0.00003
NM_000159.4(GCDH):c.892G>A (p.Ala298Thr) rs761765983 0.00002
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456 0.00002
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser) rs768925619 0.00001
NM_000159.4(GCDH):c.1169G>C (p.Gly390Ala) rs778153326 0.00001
NM_000159.4(GCDH):c.198del (p.Ile67fs) rs1057517088 0.00001
NM_000159.4(GCDH):c.226C>T (p.Gln76Ter) rs898043081 0.00001
NM_000159.4(GCDH):c.356C>T (p.Ser119Leu) rs886043840 0.00001
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631 0.00001
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270 0.00001
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890 0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg) rs749452002 0.00001
NM_000159.4(GCDH):c.636-1G>A rs398123195 0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371 0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter) rs794726972 0.00001
NM_000159.4(GCDH):c.1082+1G>T rs1555751109
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1173dup (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1239C>A (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1239C>G (p.Tyr413Ter) rs776082304
NM_000159.4(GCDH):c.1244-2A>G rs199999619
NM_000159.4(GCDH):c.1317A>G (p.Ter439Trp) rs1555751995
NM_000159.4(GCDH):c.172G>T (p.Glu58Ter) rs1006150317
NM_000159.4(GCDH):c.192G>T (p.Glu64Asp) rs1555749239
NM_000159.4(GCDH):c.1A>C (p.Met1Leu) rs1197426645
NM_000159.4(GCDH):c.219del (p.Tyr74fs) rs1057516521
NM_000159.4(GCDH):c.271+1G>A rs786204639
NM_000159.4(GCDH):c.272-2A>C rs1555749369
NM_000159.4(GCDH):c.301G>A (p.Gly101Arg) rs1273164833
NM_000159.4(GCDH):c.329_332del (p.Ile110fs) rs1555749434
NM_000159.4(GCDH):c.334G>T (p.Gly112Ter) rs758137643
NM_000159.4(GCDH):c.337T>C (p.Tyr113His) rs1555749853
NM_000159.4(GCDH):c.339T>G (p.Tyr113Ter) rs768836114
NM_000159.4(GCDH):c.3G>A (p.Met1Ile) rs1230368107
NM_000159.4(GCDH):c.505+1_505+8del rs1057516855
NM_000159.4(GCDH):c.514G>T (p.Glu172Ter) rs1057516715
NM_000159.4(GCDH):c.533G>A (p.Gly178Glu) rs786204627
NM_000159.4(GCDH):c.646_649dup (p.Pro217fs) rs1555750542
NM_000159.4(GCDH):c.665_668del (p.Leu221_Phe222insTer) rs1057516899
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter) rs786205862
NM_000159.4(GCDH):c.727_730dup (p.Gly244fs) rs1555750580
NM_000159.4(GCDH):c.79del (p.Ala27fs) rs1057516939
NM_000159.4(GCDH):c.80_81del (p.Ala27fs) rs1057516522
NM_000159.4(GCDH):c.853-2A>G rs1057517410
NM_000159.4(GCDH):c.873del (p.Asn291fs) rs1057517407

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