ClinVar Miner

List of variants studied for DDOST-congenital disorder of glycosylation

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 189
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HGVS dbSNP gnomAD frequency
NM_005216.5(DDOST):c.315C>T (p.Gly105=) rs4704 0.63408
NM_005216.5(DDOST):c.646-16C>T rs607254 0.38527
NM_005216.5(DDOST):c.456+18C>T rs3738140 0.19425
NC_000001.11:g.20661380= rs537816 0.02282
NM_005216.5(DDOST):c.831C>T (p.Ala277=) rs6692016 0.02273
NM_005216.5(DDOST):c.66G>A (p.Ala22=) rs17837938 0.01665
NM_005216.5(DDOST):c.265+9T>A rs79243170 0.01029
NM_005216.5(DDOST):c.-12A>C rs61739382 0.00736
NM_005216.5(DDOST):c.663G>A (p.Gly221=) rs41307775 0.00625
NM_005216.5(DDOST):c.1176C>T (p.Ser392=) rs149576051 0.00320
NM_005216.5(DDOST):c.776C>T (p.Ala259Val) rs138061134 0.00201
NM_005216.5(DDOST):c.353-11G>C rs202107268 0.00182
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile) rs145940009 0.00165
NM_005216.5(DDOST):c.1209C>T (p.Arg403=) rs148883998 0.00148
NM_005216.5(DDOST):c.711C>T (p.Arg237=) rs34189097 0.00099
NM_005216.5(DDOST):c.893G>A (p.Arg298Gln) rs117925699 0.00098
NM_005216.5(DDOST):c.36C>G (p.Leu12=) rs143329944 0.00081
NM_005216.5(DDOST):c.148C>T (p.Leu50=) rs143421115 0.00066
NM_005216.5(DDOST):c.508G>A (p.Val170Ile) rs111334879 0.00063
NM_005216.5(DDOST):c.596C>T (p.Thr199Met) rs142593688 0.00051
NM_005216.5(DDOST):c.142C>T (p.Arg48Trp) rs140409217 0.00050
NM_005216.5(DDOST):c.712G>A (p.Val238Ile) rs150551993 0.00046
NM_005216.5(DDOST):c.917A>G (p.Asn306Ser) rs764755742 0.00042
NM_005216.5(DDOST):c.384C>T (p.Cys128=) rs148134377 0.00034
NM_005216.5(DDOST):c.1293C>T (p.His431=) rs117634838 0.00031
NM_005216.5(DDOST):c.509T>C (p.Val170Ala) rs146767054 0.00026
NM_005216.5(DDOST):c.352+9G>A rs367895981 0.00025
NM_005216.5(DDOST):c.1170+16dup rs566726706 0.00021
NM_005216.5(DDOST):c.894G>C (p.Arg298=) rs145327708 0.00021
NC_000001.11:g.20661386A>C rs149951380 0.00017
NM_005216.5(DDOST):c.999C>T (p.Gly333=) rs190780604 0.00017
NM_005216.5(DDOST):c.1221G>A (p.Ser407=) rs142441124 0.00014
NM_005216.5(DDOST):c.752T>C (p.Phe251Ser) rs199782279 0.00014
NM_005216.5(DDOST):c.733G>A (p.Asp245Asn) rs780103981 0.00011
NM_005216.5(DDOST):c.265+6G>C rs372328091 0.00009
NM_005216.5(DDOST):c.457-14T>A rs373001976 0.00009
NM_005216.5(DDOST):c.645+9T>C rs374229790 0.00009
NM_005216.5(DDOST):c.236A>G (p.Asn79Ser) rs773982629 0.00006
NM_005216.5(DDOST):c.552-13C>T rs373356614 0.00006
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys) rs1038330038 0.00006
NM_005216.5(DDOST):c.815A>G (p.Tyr272Cys) rs369105590 0.00006
NM_005216.5(DDOST):c.207C>T (p.Leu69=) rs753702642 0.00005
NM_005216.5(DDOST):c.1206G>A (p.Glu402=) rs1262965370 0.00004
NM_005216.5(DDOST):c.1236C>T (p.Tyr412=) rs376894317 0.00004
NM_005216.5(DDOST):c.154+19G>C rs200373074 0.00004
NM_005216.5(DDOST):c.468C>T (p.Ile156=) rs376070047 0.00004
NM_005216.5(DDOST):c.627G>A (p.Pro209=) rs772970010 0.00004
NM_005216.5(DDOST):c.710G>A (p.Arg237His) rs774094300 0.00004
NM_005216.5(DDOST):c.955G>A (p.Val319Met) rs921210147 0.00004
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln) rs74526704 0.00003
NM_005216.5(DDOST):c.1314C>T (p.Ser438=) rs764406890 0.00003
NM_005216.5(DDOST):c.399C>T (p.Asp133=) rs199859745 0.00003
NM_005216.5(DDOST):c.777G>A (p.Ala259=) rs757033527 0.00003
NM_005216.5(DDOST):c.109C>T (p.Leu37Phe) rs150936849 0.00002
NM_005216.5(DDOST):c.1305G>A (p.Lys435=) rs370226725 0.00002
NM_005216.5(DDOST):c.619T>G (p.Phe207Val) rs145758022 0.00002
NM_005216.5(DDOST):c.1096G>A (p.Asp366Asn) rs886045864 0.00001
NM_005216.5(DDOST):c.1098C>T (p.Asp366=) rs777455786 0.00001
NM_005216.5(DDOST):c.10A>G (p.Ser4Gly) rs1166127455 0.00001
NM_005216.5(DDOST):c.1196C>T (p.Thr399Met) rs530990753 0.00001
NM_005216.5(DDOST):c.119G>A (p.Arg40Gln) rs761548809 0.00001
NM_005216.5(DDOST):c.1281C>T (p.Ile427=) rs923235061 0.00001
NM_005216.5(DDOST):c.154G>A (p.Asp52Asn) rs778335267 0.00001
NM_005216.5(DDOST):c.168G>A (p.Glu56=) rs747449468 0.00001
NM_005216.5(DDOST):c.188A>C (p.Asp63Ala) rs2053427789 0.00001
NM_005216.5(DDOST):c.502A>G (p.Thr168Ala) rs372948054 0.00001
NM_005216.5(DDOST):c.597G>A (p.Thr199=) rs755031163 0.00001
NM_005216.5(DDOST):c.645G>C (p.Gln215His) rs867045420 0.00001
NM_005216.5(DDOST):c.646-14C>T rs543407020 0.00001
NM_005216.5(DDOST):c.709C>T (p.Arg237Cys) rs748804145 0.00001
NM_005216.5(DDOST):c.744C>T (p.Ser248=) rs1253059046 0.00001
NM_005216.5(DDOST):c.780G>A (p.Ala260=) rs961389384 0.00001
NC_000001.10:g.(?_19199339)_(22987879_?)dup
NC_000001.11:g.(?_20652359)_(20661421_?)del
NC_000001.11:g.20661370G>A rs140102515
NC_000001.11:g.20661370G>C rs140102515
NC_000001.11:g.20661380G>C rs537816
NM_005216.4(DDOST):c.206_211delACCGGG rs769669810
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly) rs1391192747
NM_005216.5(DDOST):c.*40A>G rs6893
NM_005216.5(DDOST):c.-18T>G rs1196325942
NM_005216.5(DDOST):c.-5G>A
NM_005216.5(DDOST):c.1000G>A (p.Asp334Asn)
NM_005216.5(DDOST):c.1028T>C (p.Ile343Thr)
NM_005216.5(DDOST):c.104A>T (p.Asp35Val)
NM_005216.5(DDOST):c.1053GAA[2] (p.Lys354del) rs776647294
NM_005216.5(DDOST):c.1063+19C>A
NM_005216.5(DDOST):c.1063+19C>T
NM_005216.5(DDOST):c.1063+20G>A
NM_005216.5(DDOST):c.1063+34dup rs11428148
NM_005216.5(DDOST):c.1064-2A>C
NM_005216.5(DDOST):c.1064-5C>T
NM_005216.5(DDOST):c.1075A>G (p.Ser359Gly)
NM_005216.5(DDOST):c.111C>T (p.Leu37=) rs2154534463
NM_005216.5(DDOST):c.1151A>G (p.His384Arg)
NM_005216.5(DDOST):c.1153C>T (p.Leu385=)
NM_005216.5(DDOST):c.1158C>T (p.Tyr386=)
NM_005216.5(DDOST):c.1170+4A>G
NM_005216.5(DDOST):c.1171-7_1171-5del
NM_005216.5(DDOST):c.1171-9C>G
NM_005216.5(DDOST):c.1177G>A (p.Val393Met)
NM_005216.5(DDOST):c.1210T>C (p.Phe404Leu)
NM_005216.5(DDOST):c.1214_1235del (p.Ile405fs) rs587776874
NM_005216.5(DDOST):c.1215C>T (p.Ile405=)
NM_005216.5(DDOST):c.1218C>T (p.Pro406=)
NM_005216.5(DDOST):c.1220C>T (p.Ser407Leu)
NM_005216.5(DDOST):c.1226A>G (p.Tyr409Cys)
NM_005216.5(DDOST):c.1243G>A (p.Ala415Thr)
NM_005216.5(DDOST):c.1263G>C (p.Gly421=)
NM_005216.5(DDOST):c.1274T>A (p.Phe425Tyr) rs374032054
NM_005216.5(DDOST):c.1284CTT[1] (p.Phe429del)
NM_005216.5(DDOST):c.1287C>A (p.Phe429Leu)
NM_005216.5(DDOST):c.132G>T (p.Ser44=)
NM_005216.5(DDOST):c.154+14C>T
NM_005216.5(DDOST):c.154+5G>A
NM_005216.5(DDOST):c.154+7G>C
NM_005216.5(DDOST):c.154+8C>T
NM_005216.5(DDOST):c.167A>G (p.Glu56Gly) rs2154534449
NM_005216.5(DDOST):c.173C>T (p.Thr58Ile)
NM_005216.5(DDOST):c.225C>T (p.Phe75=) rs1408934262
NM_005216.5(DDOST):c.237T>A (p.Asn79Lys)
NM_005216.5(DDOST):c.243C>T (p.Ile81=)
NM_005216.5(DDOST):c.24G>A (p.Arg8=)
NM_005216.5(DDOST):c.253C>A (p.Pro85Thr)
NM_005216.5(DDOST):c.254C>T (p.Pro85Leu)
NM_005216.5(DDOST):c.278A>G (p.Asn93Ser)
NM_005216.5(DDOST):c.280A>T (p.Ile94Phe)
NM_005216.5(DDOST):c.287T>C (p.Val96Ala)
NM_005216.5(DDOST):c.308T>C (p.Ile103Thr)
NM_005216.5(DDOST):c.312C>T (p.Asp104=)
NM_005216.5(DDOST):c.313G>A (p.Gly105Ser)
NM_005216.5(DDOST):c.321C>T (p.Gly107=)
NM_005216.5(DDOST):c.32C>T (p.Ala11Val)
NM_005216.5(DDOST):c.331G>A (p.Val111Ile)
NM_005216.5(DDOST):c.352+2T>C
NM_005216.5(DDOST):c.364C>T (p.Arg122Ter)
NM_005216.5(DDOST):c.382T>G (p.Cys128Gly)
NM_005216.5(DDOST):c.419T>C (p.Ile140Thr)
NM_005216.5(DDOST):c.427C>G (p.His143Asp) rs2154534284
NM_005216.5(DDOST):c.456+4A>G
NM_005216.5(DDOST):c.457-9T>G
NM_005216.5(DDOST):c.462G>A (p.Thr154=)
NM_005216.5(DDOST):c.492G>A (p.Leu164=)
NM_005216.5(DDOST):c.532A>G (p.Ile178Val)
NM_005216.5(DDOST):c.534C>T (p.Ile178=)
NM_005216.5(DDOST):c.540T>C (p.Phe180=) rs2154534275
NM_005216.5(DDOST):c.551+11G>A rs369573026
NM_005216.5(DDOST):c.551+17G>A
NM_005216.5(DDOST):c.552-12G>A
NM_005216.5(DDOST):c.579G>A (p.Leu193=)
NM_005216.5(DDOST):c.583C>G (p.Leu195Val)
NM_005216.5(DDOST):c.599G>A (p.Gly200Asp) rs387906831
NM_005216.5(DDOST):c.618C>A (p.Ser206=)
NM_005216.5(DDOST):c.626C>T (p.Pro209Leu)
NM_005216.5(DDOST):c.632A>T (p.Lys211Met)
NM_005216.5(DDOST):c.635C>T (p.Pro212Leu)
NM_005216.5(DDOST):c.63C>T (p.Gly21=)
NM_005216.5(DDOST):c.645+19T>C
NM_005216.5(DDOST):c.646-11T>A
NM_005216.5(DDOST):c.656C>T (p.Ala219Val)
NM_005216.5(DDOST):c.687_688delinsAA (p.Leu230Ile)
NM_005216.5(DDOST):c.68T>G (p.Val23Gly)
NM_005216.5(DDOST):c.694G>T (p.Ala232Ser)
NM_005216.5(DDOST):c.6G>T (p.Glu2Asp)
NM_005216.5(DDOST):c.728C>T (p.Ser243Phe) rs2053339801
NM_005216.5(DDOST):c.732C>A (p.Leu244=) rs149114970
NM_005216.5(DDOST):c.751TTC[1] (p.Phe252del) rs751872569
NM_005216.5(DDOST):c.753C>T (p.Phe251=)
NM_005216.5(DDOST):c.782C>T (p.Pro261Leu) rs2154534235
NM_005216.5(DDOST):c.794+10A>G
NM_005216.5(DDOST):c.794+10A>T
NM_005216.5(DDOST):c.795-3C>G
NM_005216.5(DDOST):c.795G>A (p.Arg265=)
NM_005216.5(DDOST):c.826G>A (p.Val276Met)
NM_005216.5(DDOST):c.82C>T (p.Pro28Ser)
NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)
NM_005216.5(DDOST):c.839G>A (p.Arg280His)
NM_005216.5(DDOST):c.83C>T (p.Pro28Leu)
NM_005216.5(DDOST):c.846del (p.Phe283fs)
NM_005216.5(DDOST):c.851AGG[2] (p.Glu286del) rs1557571295
NM_005216.5(DDOST):c.868C>T (p.Arg290Cys)
NM_005216.5(DDOST):c.869G>T (p.Arg290Leu) rs367807479
NM_005216.5(DDOST):c.884C>T (p.Ser295Phe)
NM_005216.5(DDOST):c.895G>A (p.Val299Met)
NM_005216.5(DDOST):c.897G>A (p.Val299=)
NM_005216.5(DDOST):c.900C>T (p.Gly300=)
NM_005216.5(DDOST):c.908C>T (p.Ala303Val)
NM_005216.5(DDOST):c.942+13dup
NM_005216.5(DDOST):c.942+15G>C

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