ClinVar Miner

List of variants in gene SPRED1 reported by GeneDx

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Gene type:
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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.423+105C>G rs1879937 0.95428
NM_152594.3(SPRED1):c.377-149G>A rs1879939 0.91751
NM_152594.3(SPRED1):c.582+52A>G rs7181472 0.90817
NM_152594.3(SPRED1):c.32+307A>C rs3938236 0.86429
NM_152594.3(SPRED1):c.423+272A>G rs8036371 0.82581
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82455
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82446
NM_152594.3(SPRED1):c.424-98T>C rs7163339 0.82441
NM_152594.3(SPRED1):c.685-184C>T rs12914722 0.82389
NM_152594.3(SPRED1):c.684+53_684+54insTA rs59928364 0.82367
NM_152594.3(SPRED1):c.684+49_684+50insTT rs61670754 0.82335
NM_152594.3(SPRED1):c.33-274A>G rs10220731 0.82218
NM_152594.3(SPRED1):c.423+103C>T rs1879938 0.81979
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_152594.3(SPRED1):c.685-206G>A rs12913526 0.81962
NM_152594.3(SPRED1):c.684+167A>G rs10083640 0.81947
NM_152594.3(SPRED1):c.377-319T>C rs1916153 0.77343
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_152594.3(SPRED1):c.423+292G>A rs75373471 0.04385
NM_152594.3(SPRED1):c.423+52C>A rs12595839 0.04311
NM_152594.3(SPRED1):c.*248T>C rs16966842 0.04191
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01115
NM_152594.3(SPRED1):c.684+133A>G rs76305448 0.01099
NM_152594.3(SPRED1):c.-332G>A rs147075186 0.00675
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00607
NM_152594.3(SPRED1):c.32+162G>A rs142573328 0.00332
NM_152594.3(SPRED1):c.377-201A>G rs139396722 0.00277
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00188
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_152594.3(SPRED1):c.207+15A>G rs377288061 0.00068
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602 0.00029
NM_152594.3(SPRED1):c.377-10A>G rs376134678 0.00023
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn) rs373384814 0.00017
NM_152594.3(SPRED1):c.376+3A>T rs775985211 0.00014
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met) rs766814966 0.00013
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772 0.00011
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn) rs771480941 0.00009
NM_152594.3(SPRED1):c.177T>C (p.Phe59=) rs397517871 0.00009
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_152594.3(SPRED1):c.1273A>G (p.Met425Val) rs368307475 0.00006
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His) rs369492789 0.00006
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920 0.00005
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=) rs755223172 0.00005
NM_152594.3(SPRED1):c.594T>C (p.Gly198=) rs756643495 0.00004
NM_152594.3(SPRED1):c.-18G>T rs755489788 0.00003
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn) rs904563789 0.00003
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys) rs765788978 0.00002
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 0.00002
NM_152594.3(SPRED1):c.1025T>A (p.Phe342Tyr) rs1888483954 0.00001
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val) rs764768156 0.00001
NM_152594.3(SPRED1):c.1261G>A (p.Val421Ile) rs752958999 0.00001
NM_152594.3(SPRED1):c.1282C>T (p.Arg428Cys) rs941091989 0.00001
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val) rs746414913 0.00001
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly) rs959758606 0.00001
NM_152594.3(SPRED1):c.196A>C (p.Arg66=) rs751923342 0.00001
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile) rs369150309 0.00001
NM_152594.3(SPRED1):c.236A>G (p.Asp79Gly) rs2140994779 0.00001
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr) rs761473300 0.00001
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053 0.00001
NM_152594.3(SPRED1):c.33-11A>G rs775671940 0.00001
NM_152594.3(SPRED1):c.350G>A (p.Arg117Gln) rs749378713 0.00001
NM_152594.3(SPRED1):c.384C>T (p.Pro128=) rs761058615 0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941 0.00001
NM_152594.3(SPRED1):c.620G>C (p.Arg207Thr) rs2141014869 0.00001
NM_152594.3(SPRED1):c.700A>G (p.Ile234Val) rs1199792537 0.00001
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys) rs886041428 0.00001
NM_152594.3(SPRED1):c.829G>A (p.Asp277Asn) rs1043239392 0.00001
NM_152594.3(SPRED1):c.920A>G (p.Asp307Gly) rs764868020 0.00001
NM_152594.3(SPRED1):c.982G>A (p.Glu328Lys) rs1352455265 0.00001
NC_000015.10:g.38252630G>T rs569895675
NM_152594.3(SPRED1):c.-22A>C rs1057518143
NM_152594.3(SPRED1):c.1048_1060del (p.Gly350fs) rs1057517943
NM_152594.3(SPRED1):c.1091A>G (p.Tyr364Cys)
NM_152594.3(SPRED1):c.1103G>C (p.Cys368Ser) rs2141016537
NM_152594.3(SPRED1):c.1119G>T (p.Glu373Asp) rs1085307754
NM_152594.3(SPRED1):c.1144G>C (p.Asp382His)
NM_152594.3(SPRED1):c.1145A>T (p.Asp382Val) rs2542744060
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1192dup (p.Asp398fs)
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.1229T>C (p.Leu410Ser)
NM_152594.3(SPRED1):c.1292_1293dup (p.Ala432fs)
NM_152594.3(SPRED1):c.14C>G (p.Thr5Arg) rs2140943407
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.196_197del (p.Arg66fs)
NM_152594.3(SPRED1):c.207+37A>G rs2272105
NM_152594.3(SPRED1):c.208-12G>A rs2542695352
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg) rs1555391042
NM_152594.3(SPRED1):c.299G>T (p.Gly100Val) rs1555391048
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro) rs1595746820
NM_152594.3(SPRED1):c.311A>G (p.Gln104Arg) rs748376033
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.35_41dup (p.Tyr14Ter)
NM_152594.3(SPRED1):c.376+279_376+291del rs3841233
NM_152594.3(SPRED1):c.38G>A (p.Ser13Asn) rs1057517922
NM_152594.3(SPRED1):c.424-4A>G rs1057518328
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln) rs757726772
NM_152594.3(SPRED1):c.49G>C (p.Val17Leu) rs1895106351
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.583-11_583-8del rs2542739108
NM_152594.3(SPRED1):c.598C>T (p.Pro200Ser)
NM_152594.3(SPRED1):c.636A>C (p.Val212=) rs1057523137
NM_152594.3(SPRED1):c.658T>C (p.Cys220Arg)
NM_152594.3(SPRED1):c.66G>T (p.Met22Ile) rs1555389685
NM_152594.3(SPRED1):c.684+50_684+51insAAT rs34352434
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.71_72delinsTT (p.Arg24Leu) rs2140978413
NM_152594.3(SPRED1):c.722A>G (p.Asp241Gly) rs2141016047
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly) rs1057524159
NM_152594.3(SPRED1):c.773A>G (p.Tyr258Cys) rs2141016090
NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter) rs1566876690
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.836_837delinsTA (p.Ser279Ile)
NM_152594.3(SPRED1):c.858C>G (p.Asp286Glu)
NM_152594.3(SPRED1):c.893A>G (p.Asp298Gly) rs2542742959
NM_152594.3(SPRED1):c.898A>G (p.Thr300Ala) rs1888477050
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs) rs1595763662
NM_152594.3(SPRED1):c.91T>A (p.Trp31Arg)
NM_152594.3(SPRED1):c.933T>C (p.Phe311=) rs1057522873
NM_152594.3(SPRED1):c.964A>T (p.Lys322Ter) rs2542743264
NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly) rs1057518683

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