ClinVar Miner

List of variants in gene GCDH reported by GeneDx

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Gene type:
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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000159.4(GCDH):c.506-121T>C rs2238641 0.33953
NM_000159.4(GCDH):c.852+223C>T rs11085825 0.30906
NM_000159.4(GCDH):c.1173G>T (p.Gly391=) rs1060218 0.30844
NM_000159.4(GCDH):c.505+268C>T rs73505327 0.05464
NM_000159.4(GCDH):c.505+32G>A rs73505326 0.05459
NM_000159.4(GCDH):c.334+161_334+162dup rs58273148 0.05441
NM_000159.4(GCDH):c.334+121C>A rs58971437 0.05440
NM_000159.4(GCDH):c.1083-106T>C rs114299840 0.02933
NM_000159.4(GCDH):c.506-76C>T rs149381119 0.01444
NM_000159.4(GCDH):c.853-155G>A rs59033408 0.01296
NM_000159.4(GCDH):c.1243+303G>A rs116431183 0.00983
NM_000159.4(GCDH):c.334+247G>A rs114415076 0.00836
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp) rs114759170 0.00453
NM_000159.4(GCDH):c.1082+22C>T rs201346843 0.00281
NM_000159.4(GCDH):c.642G>A (p.Thr214=) rs142806397 0.00170
NM_000159.4(GCDH):c.271+3G>A rs75430014 0.00167
NM_000159.4(GCDH):c.1197C>T (p.His399=) rs139344943 0.00131
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00081
NM_000159.4(GCDH):c.636-18C>T rs183109666 0.00038
NM_000159.4(GCDH):c.531C>T (p.Phe177=) rs144013229 0.00037
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro) rs121434373 0.00026
NM_000159.4(GCDH):c.738G>A (p.Ser246=) rs188548539 0.00023
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000159.4(GCDH):c.1213A>G (p.Met405Val) rs141437721 0.00018
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372 0.00014
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys) rs147611168 0.00014
NM_000159.4(GCDH):c.894G>A (p.Ala298=) rs150834108 0.00012
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371 0.00011
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser) rs539505767 0.00009
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141 0.00006
NM_000159.4(GCDH):c.1210G>A (p.Ala404Thr) rs201509112 0.00005
NM_000159.4(GCDH):c.335-14C>T rs781650833 0.00005
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694 0.00004
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370 0.00004
NM_000159.4(GCDH):c.1188C>T (p.Asp396=) rs779968566 0.00004
NM_000159.4(GCDH):c.285G>A (p.Glu95=) rs772071645 0.00004
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
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.891C>T (p.Ile297=) rs143102910 0.00003
NM_000159.4(GCDH):c.1209C>T (p.His403=) rs747746632 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
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.1014C>T (p.Asp338=) rs1400225199 0.00001
NM_000159.4(GCDH):c.1131A>G (p.Lys377=) rs139241235 0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs) rs1970722328 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 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.460G>A (p.Ala154Thr) rs759415410 0.00001
NM_000159.4(GCDH):c.505+20G>T rs1057522095 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu) rs1260580183 0.00001
NM_000159.4(GCDH):c.1098G>A (p.Met366Ile) rs1599618698
NM_000159.4(GCDH):c.1156C>G (p.Arg386Gly) rs752127949
NM_000159.4(GCDH):c.1173del (p.Asn392fs) rs754002357
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys) rs142967670
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.397G>T (p.Val133Leu) rs746388510
NM_000159.4(GCDH):c.401A>T (p.Asp134Val) rs1970604130
NM_000159.4(GCDH):c.506-119G>A rs12151303
NM_000159.4(GCDH):c.506-194del rs56251518
NM_000159.4(GCDH):c.506-194dup rs56251518
NM_000159.4(GCDH):c.506-195_506-194del rs56251518
NM_000159.4(GCDH):c.583G>A (p.Ala195Thr) rs2145950460
NM_000159.4(GCDH):c.591C>T (p.Tyr197=) rs755546081
NM_000159.4(GCDH):c.650C>T (p.Pro217Leu)
NM_000159.4(GCDH):c.692G>C (p.Gly231Ala)
NM_000159.4(GCDH):c.706T>C (p.Phe236Leu) rs747920711
NM_000159.4(GCDH):c.712C>T (p.Leu238=) rs1555750571
NM_000159.4(GCDH):c.749T>C (p.Ile250Thr) rs2145951275
NM_000159.4(GCDH):c.956+5G>A rs1131691319
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972

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