ClinVar Miner

List of variants in gene SRD5A3 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_024592.5(SRD5A3):c.*2589G>A rs819271 0.71550
NM_024592.5(SRD5A3):c.*1069G>A rs501679 0.65365
NM_024592.5(SRD5A3):c.*321C>T rs13149568 0.35130
NM_024592.5(SRD5A3):c.*2005T>C rs819269 0.27879
NM_024592.5(SRD5A3):c.*70C>T rs2538 0.27858
NM_024592.5(SRD5A3):c.*546G>A rs573960 0.27847
NM_024592.5(SRD5A3):c.*2368G>A rs819270 0.27839
NM_024592.5(SRD5A3):c.*879C>T rs576732 0.27835
NM_024592.5(SRD5A3):c.*2063G>A rs73236134 0.03578
NM_024592.5(SRD5A3):c.*1706G>A rs147485112 0.03469
NM_024592.5(SRD5A3):c.*275G>T rs145768388 0.02343
NM_024592.5(SRD5A3):c.*1859C>T rs1047343 0.01513
NM_024592.5(SRD5A3):c.*1601G>A rs111238066 0.01486
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673 0.01465
NM_024592.5(SRD5A3):c.-40G>A rs111568566 0.01461
NM_024592.5(SRD5A3):c.*2641G>A rs75311188 0.01148
NM_024592.5(SRD5A3):c.*1329T>C rs115046277 0.01012
NM_024592.5(SRD5A3):c.*2984A>G rs73816266 0.00855
NM_024592.5(SRD5A3):c.*2112G>A rs143649104 0.00838
NM_024592.5(SRD5A3):c.*2915A>G rs62306203 0.00701
NM_024592.5(SRD5A3):c.*991C>T rs148298848 0.00298
NM_024592.5(SRD5A3):c.*1624G>A rs181336685 0.00283
NM_024592.5(SRD5A3):c.*104T>A rs116416011 0.00280
NM_024592.5(SRD5A3):c.*2884C>T rs529368289 0.00230
NM_024592.5(SRD5A3):c.*2870A>G rs77437700 0.00173
NM_024592.5(SRD5A3):c.-84G>C rs532409901 0.00170
NM_024592.5(SRD5A3):c.*242T>C rs559061546 0.00138
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu) rs199975696 0.00114
NM_024592.5(SRD5A3):c.*2306C>A rs565143999 0.00111
NM_024592.5(SRD5A3):c.*590C>T rs149214750 0.00105
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser) rs35496669 0.00101
NM_024592.5(SRD5A3):c.*621C>T rs548604752 0.00096
NM_024592.5(SRD5A3):c.*854G>T rs79421332 0.00088
NM_024592.5(SRD5A3):c.364+19T>C rs201315974 0.00081
NM_024592.5(SRD5A3):c.*812T>C rs758820353 0.00078
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899 0.00070
NM_024592.5(SRD5A3):c.*1665G>A rs534350836 0.00065
NM_024592.5(SRD5A3):c.*2248G>A rs757166668 0.00065
NM_024592.5(SRD5A3):c.*2430C>T rs537128790 0.00035
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=) rs201123766 0.00032
NM_024592.5(SRD5A3):c.698-8C>T rs369712923 0.00019
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=) rs200253126 0.00015
NM_024592.5(SRD5A3):c.*1518C>T rs780042332 0.00014
NM_024592.5(SRD5A3):c.*2983T>C rs924086302 0.00014
NM_024592.5(SRD5A3):c.-27G>T rs778218591 0.00014
NM_024592.5(SRD5A3):c.365-15C>T rs369112025 0.00013
NM_024592.5(SRD5A3):c.*261A>G rs576643627 0.00011
NM_024592.5(SRD5A3):c.*92G>A rs774927041 0.00011
NM_024592.5(SRD5A3):c.633C>G (p.Ile211Met) rs142711275 0.00011
NM_024592.5(SRD5A3):c.*2111G>T rs886059477 0.00007
NM_024592.5(SRD5A3):c.448G>A (p.Val150Ile) rs151267741 0.00007
NM_024592.5(SRD5A3):c.*707G>T rs886059474 0.00006
NM_024592.5(SRD5A3):c.123G>A (p.Pro41=) rs760463357 0.00006
NM_024592.5(SRD5A3):c.*2120T>G rs959439608 0.00004
NM_024592.5(SRD5A3):c.*2950T>C rs1363381757 0.00004
NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys) rs772795484 0.00004
NM_024592.5(SRD5A3):c.464A>G (p.Asn155Ser) rs770085775 0.00004
NM_024592.5(SRD5A3):c.*2560A>G rs886059483 0.00003
NM_024592.5(SRD5A3):c.*2804C>T rs886059484 0.00003
NM_024592.5(SRD5A3):c.*594C>T rs1445697837 0.00003
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg) rs764835755 0.00003
NM_024592.5(SRD5A3):c.262G>A (p.Gly88Ser) rs374807694 0.00003
NM_024592.5(SRD5A3):c.423A>G (p.Leu141=) rs143299030 0.00003
NM_024592.5(SRD5A3):c.802G>A (p.Val268Ile) rs549620113 0.00003
NM_024592.5(SRD5A3):c.*1567T>C rs886059475 0.00002
NM_024592.5(SRD5A3):c.124G>A (p.Gly42Ser) rs145649665 0.00002
NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr) rs548088851 0.00002
NM_024592.5(SRD5A3):c.365-19G>C rs376721684 0.00002
NM_024592.5(SRD5A3):c.444C>T (p.Leu148=) rs201424796 0.00002
NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser) rs748408459 0.00002
NM_024592.5(SRD5A3):c.*1935C>T rs886059476 0.00001
NM_024592.5(SRD5A3):c.*2134G>A rs886059478 0.00001
NM_024592.5(SRD5A3):c.*2227G>A rs886059480 0.00001
NM_024592.5(SRD5A3):c.*2637T>G rs1369824859 0.00001
NM_024592.5(SRD5A3):c.*873A>G rs1449473949 0.00001
NM_024592.5(SRD5A3):c.-30C>A rs886059471 0.00001
NM_024592.5(SRD5A3):c.169T>C (p.Cys57Arg) rs530006860 0.00001
NM_024592.5(SRD5A3):c.221+10C>T rs777676728 0.00001
NM_024592.5(SRD5A3):c.263G>T (p.Gly88Val) rs893706862 0.00001
NM_024592.5(SRD5A3):c.480C>T (p.Val160=) rs797046008 0.00001
NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu) rs879845715 0.00001
NM_024592.5(SRD5A3):c.50C>T (p.Ala17Val) rs1175656094 0.00001
NM_024592.5(SRD5A3):c.517G>A (p.Val173Ile) rs758023141 0.00001
NM_024592.5(SRD5A3):c.562+3del rs752307253 0.00001
NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter) rs398124401 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu) rs768516153 0.00001
NM_024592.5(SRD5A3):c.821A>G (p.Asn274Ser) rs569181314 0.00001
NM_024592.5(SRD5A3):c.837A>G (p.Leu279=) rs771882471 0.00001
NC_000004.11:g.(?_56225493)_(56225675_?)del
NM_024592.4:c.(221+1_222-1)_(697+1_698-1)dup
NM_024592.5(SRD5A3):c.*1504A>G rs188625522
NM_024592.5(SRD5A3):c.*2022A>C rs1219052341
NM_024592.5(SRD5A3):c.*2090G>A rs547199503
NM_024592.5(SRD5A3):c.*2193G>T rs886059479
NM_024592.5(SRD5A3):c.*2256C>T rs886059481
NM_024592.5(SRD5A3):c.*2437G>A rs147183515
NM_024592.5(SRD5A3):c.*2437G>C rs147183515
NM_024592.5(SRD5A3):c.*2950T>G rs1363381757
NM_024592.5(SRD5A3):c.*622C>T rs951741748
NM_024592.5(SRD5A3):c.*968C>T rs78470512
NM_024592.5(SRD5A3):c.100C>G (p.Leu34Val) rs769919131
NM_024592.5(SRD5A3):c.114C>T (p.Gly38=)
NM_024592.5(SRD5A3):c.126C>G (p.Gly42=) rs776362756
NM_024592.5(SRD5A3):c.144C>T (p.Asp48=)
NM_024592.5(SRD5A3):c.171T>C (p.Cys57=)
NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp)
NM_024592.5(SRD5A3):c.203C>A (p.Ala68Asp)
NM_024592.5(SRD5A3):c.221+13C>T
NM_024592.5(SRD5A3):c.221+7G>A
NM_024592.5(SRD5A3):c.222-19G>C
NM_024592.5(SRD5A3):c.222-20C>T
NM_024592.5(SRD5A3):c.22G>A (p.Glu8Lys) rs539407364
NM_024592.5(SRD5A3):c.243C>T (p.Ile81=)
NM_024592.5(SRD5A3):c.279C>A (p.Cys93Ter) rs1482361634
NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter) rs587776521
NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter) rs267607094
NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter) rs267607093
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe) rs1578206800
NM_024592.5(SRD5A3):c.344T>G (p.Leu115Arg)
NM_024592.5(SRD5A3):c.345C>T (p.Leu115=)
NM_024592.5(SRD5A3):c.351G>A (p.Ala117=)
NM_024592.5(SRD5A3):c.364+18T>A
NM_024592.5(SRD5A3):c.390C>G (p.Phe130Leu)
NM_024592.5(SRD5A3):c.416A>G (p.His139Arg) rs1719786702
NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter) rs267607095
NM_024592.5(SRD5A3):c.433T>C (p.Phe145Leu) rs1719787731
NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter) rs1578209906
NM_024592.5(SRD5A3):c.489C>A (p.Tyr163Ter) rs267607092
NM_024592.5(SRD5A3):c.506A>G (p.Tyr169Cys)
NM_024592.5(SRD5A3):c.50_60del (p.Ala17fs)
NM_024592.5(SRD5A3):c.563-16A>C
NM_024592.5(SRD5A3):c.56G>T (p.Trp19Leu)
NM_024592.5(SRD5A3):c.586T>C (p.Leu196=)
NM_024592.5(SRD5A3):c.598C>T (p.Arg200Trp)
NM_024592.5(SRD5A3):c.613C>T (p.Leu205Phe) rs1719953488
NM_024592.5(SRD5A3):c.627G>A (p.Met209Ile)
NM_024592.5(SRD5A3):c.63G>A (p.Thr21=)
NM_024592.5(SRD5A3):c.697+13T>C
NM_024592.5(SRD5A3):c.697+1G>C rs1719958144
NM_024592.5(SRD5A3):c.751G>C (p.Val251Leu)
NM_024592.5(SRD5A3):c.77T>G (p.Phe26Cys) rs1204016593
NM_024592.5(SRD5A3):c.789C>T (p.Tyr263=)
NM_024592.5(SRD5A3):c.83T>G (p.Leu28Arg)
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala) rs1720062980
NM_024592.5(SRD5A3):c.918C>T (p.Tyr306=)
NM_024592.5(SRD5A3):c.920C>T (p.Pro307Leu) rs769885824
NM_024592.5(SRD5A3):c.927T>C (p.His309=)
NM_024592.5(SRD5A3):c.934G>C (p.Ala312Pro) rs1720064413
NM_024592.5(SRD5A3):c.942A>G (p.Leu314=) rs1488770806
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886

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