ClinVar Miner

List of variants in gene SPRED1 reported by GeneDx

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Total variants: 58
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HGVS dbSNP
NM_152594.3(SPRED1):c.-18G>T rs755489788
NM_152594.3(SPRED1):c.-22A>C rs1057518143
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526
NM_152594.3(SPRED1):c.1048_1060del (p.Gly350fs) rs1057517943
NM_152594.3(SPRED1):c.1119G>T (p.Glu373Asp) rs1085307754
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=) rs755223172
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964
NM_152594.3(SPRED1):c.1282C>T (p.Arg428Cys) rs941091989
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val) rs746414913
NM_152594.3(SPRED1):c.196A>C (p.Arg66=) rs751923342
NM_152594.3(SPRED1):c.207+15A>G rs377288061
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr) rs761473300
NM_152594.3(SPRED1):c.32+307A>C rs3938236
NM_152594.3(SPRED1):c.33-11A>G rs775671940
NM_152594.3(SPRED1):c.33-274A>G rs10220731
NM_152594.3(SPRED1):c.376+279_376+291del rs3841233
NM_152594.3(SPRED1):c.376+3A>T rs775985211
NM_152594.3(SPRED1):c.377-10A>G rs376134678
NM_152594.3(SPRED1):c.377-149G>A rs1879939
NM_152594.3(SPRED1):c.377-319T>C rs1916153
NM_152594.3(SPRED1):c.384C>T (p.Pro128=) rs761058615
NM_152594.3(SPRED1):c.38G>A (p.Ser13Asn) rs1057517922
NM_152594.3(SPRED1):c.423+103C>T rs1879938
NM_152594.3(SPRED1):c.423+105C>G rs1879937
NM_152594.3(SPRED1):c.423+272A>G rs8036371
NM_152594.3(SPRED1):c.424-18G>A rs7179118
NM_152594.3(SPRED1):c.424-4A>G rs1057518328
NM_152594.3(SPRED1):c.424-8C>A rs7180446
NM_152594.3(SPRED1):c.424-98T>C rs7163339
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn) rs373384814
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941
NM_152594.3(SPRED1):c.582+52A>G rs7181472
NM_152594.3(SPRED1):c.583-7A>G rs115970207
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792
NM_152594.3(SPRED1):c.594T>C (p.Gly198=) rs756643495
NM_152594.3(SPRED1):c.636A>C (p.Val212=) rs1057523137
NM_152594.3(SPRED1):c.66G>T (p.Met22Ile) rs1555389685
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225
NM_152594.3(SPRED1):c.684+167A>G rs10083640
NM_152594.3(SPRED1):c.685-184C>T rs12914722
NM_152594.3(SPRED1):c.685-206G>A rs12913526
NM_152594.3(SPRED1):c.685-244G>C rs12913505
NM_152594.3(SPRED1):c.703A>C (p.Arg235=) rs1177047281
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln) rs1057518150
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly) rs1057524159
NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter) rs1566876690
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys) rs886041428
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs) rs1595763662
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635
NM_152594.3(SPRED1):c.933T>C (p.Phe311=) rs1057522873
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met) rs766814966
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772

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