List of variants in gene GCDH reported by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 100

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HGVS	dbSNP	gnomAD frequency
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)	rs121434373	0.00026
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.572T>C (p.Met191Thr)	rs149120354	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.877G>A (p.Ala293Thr)	rs121434371	0.00011
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn)	rs200785120	0.00010
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.881G>A (p.Arg294Gln)	rs775606471	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.268G>A (p.Glu90Lys)	rs1025558859	0.00004
NM_000159.4(GCDH):c.848del (p.Leu283fs)	rs761491320	0.00004
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)	rs567564095	0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His)	rs764608975	0.00003
NM_000159.4(GCDH):c.344G>A (p.Cys115Tyr)	rs776758971	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.553G>A (p.Gly185Arg)	rs576948027	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.938G>A (p.Arg313Gln)	rs746220312	0.00002
NM_000159.4(GCDH):c.1015A>G (p.Met339Val)	rs752234195	0.00001
NM_000159.4(GCDH):c.1045G>A (p.Ala349Thr)	rs1257292639	0.00001
NM_000159.4(GCDH):c.1060G>A (p.Gly354Ser)	rs768925619	0.00001
NM_000159.4(GCDH):c.1064G>A (p.Arg355His)	rs748275416	0.00001
NM_000159.4(GCDH):c.1156C>T (p.Arg386Ter)	rs752127949	0.00001
NM_000159.4(GCDH):c.1199dup (p.Ile401fs)	rs1970722328	0.00001
NM_000159.4(GCDH):c.1213dup (p.Met405fs)	rs1377352983	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.463T>C (p.Tyr155His)	rs1482995062	0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg)	rs1176799813	0.00001
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)	rs777201305	0.00001
NM_000159.4(GCDH):c.532G>A (p.Gly178Arg)	rs749452002	0.00001
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)	rs754312389	0.00001
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu)	rs758503371	0.00001
NM_000159.4(GCDH):c.770G>A (p.Arg257Gln)	rs751583656	0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)	rs751742575	0.00001
NM_000159.4(GCDH):c.852+5G>A	rs886054243	0.00001
NM_000159.4(GCDH):c.880C>T (p.Arg294Trp)	rs1864390545	0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr)	rs373203481	0.00001
NM_000159.4(GCDH):c.914C>T (p.Ser305Leu)	rs1260580183	0.00001
NM_000159.4(GCDH):c.997C>T (p.Gln333Ter)	rs794726972	0.00001
NM_000159.4(GCDH):c.1065delinsATTGA (p.Lys357fs)
NM_000159.4(GCDH):c.1082+2T>C	rs2145954110
NM_000159.4(GCDH):c.1093G>T (p.Glu365Ter)
NM_000159.4(GCDH):c.1133C>T (p.Ala378Val)	rs1970719648
NM_000159.4(GCDH):c.1144_1145del (p.Ala382fs)
NM_000159.4(GCDH):c.1157G>A (p.Arg386Gln)	rs398123190
NM_000159.4(GCDH):c.1168G>A (p.Gly390Arg)	rs372983141
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val)	rs778153326
NM_000159.4(GCDH):c.1173del (p.Asn392fs)	rs754002357
NM_000159.4(GCDH):c.1173dup (p.Asn392fs)	rs754002357
NM_000159.4(GCDH):c.1175A>G (p.Asn392Ser)	rs2145955095
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln)	rs786204626
NM_000159.4(GCDH):c.1228G>A (p.Val410Met)	rs760155287
NM_000159.4(GCDH):c.1236del (p.Tyr413fs)
NM_000159.4(GCDH):c.1243+1G>T	rs1970723970
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)	rs142967670
NM_000159.4(GCDH):c.262C>T (p.Arg88Cys)	rs142967670
NM_000159.4(GCDH):c.263G>A (p.Arg88His)	rs1970568682
NM_000159.4(GCDH):c.272-2A>C	rs1555749369
NM_000159.4(GCDH):c.272-2A>G
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln)	rs566417795
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)	rs566417795
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.337T>C (p.Tyr113His)	rs1555749853
NM_000159.4(GCDH):c.339T>A (p.Tyr113Ter)
NM_000159.4(GCDH):c.345_349del (p.Cys115fs)
NM_000159.4(GCDH):c.397dup (p.Val133fs)
NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp)	rs139851890
NM_000159.4(GCDH):c.442G>A (p.Val148Ile)
NM_000159.4(GCDH):c.464A>G (p.Tyr155Cys)
NM_000159.4(GCDH):c.481C>T (p.Arg161Trp)	rs1173575355
NM_000159.4(GCDH):c.552del (p.Ser184fs)
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr)	rs764774411
NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)
NM_000159.4(GCDH):c.650C>T (p.Pro217Leu)
NM_000159.4(GCDH):c.655G>A (p.Ala219Thr)	rs1970675055
NM_000159.4(GCDH):c.675G>A (p.Trp225Ter)	rs786205862
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe)	rs1970675873
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)	rs964724051
NM_000159.4(GCDH):c.701G>A (p.Arg234Gln)	rs1203022386
NM_000159.4(GCDH):c.706T>C (p.Phe236Leu)	rs747920711
NM_000159.4(GCDH):c.853-1G>A
NM_000159.4(GCDH):c.853-2A>G	rs1057517410
NM_000159.4(GCDH):c.885C>A (p.Tyr295Ter)	rs139192015
NM_000159.4(GCDH):c.896G>A (p.Trp299Ter)	rs1599616676
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
NM_000159.4(GCDH):c.932dup (p.Ala312fs)	rs1970695925
NM_000159.4(GCDH):c.957-1G>C
NM_000159.4(GCDH):c.961C>T (p.Gln321Ter)

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