ClinVar Miner

List of variants in gene SPRED1 reported as likely benign for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 185
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01162
NM_152594.3(SPRED1):c.*2885G>A rs79309779 0.01137
NM_152594.3(SPRED1):c.*3057A>G rs72725362 0.01095
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_152594.3(SPRED1):c.*3591C>T rs147489619 0.00529
NM_152594.3(SPRED1):c.*1040G>A rs115568221 0.00445
NM_152594.3(SPRED1):c.*2570T>C rs111997668 0.00401
NM_152594.3(SPRED1):c.*3623G>T rs148525432 0.00348
NM_152594.3(SPRED1):c.*3561G>A rs181980647 0.00234
NM_152594.3(SPRED1):c.*4372A>G rs187788660 0.00113
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_152594.3(SPRED1):c.-191C>T rs556907443 0.00088
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_152594.3(SPRED1):c.*633A>G rs118146919 0.00037
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602 0.00029
NM_152594.3(SPRED1):c.377-10A>G rs376134678 0.00026
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg) rs554327738 0.00021
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_152594.3(SPRED1):c.*2018T>G rs188392935 0.00016
NM_152594.3(SPRED1):c.*2247A>G rs118057877 0.00016
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772 0.00011
NM_152594.3(SPRED1):c.177T>C (p.Phe59=) rs397517871 0.00010
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn) rs771480941 0.00009
NM_152594.3(SPRED1):c.*4697G>A rs188784206 0.00006
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=) rs755223172 0.00005
NM_152594.3(SPRED1):c.685-8T>C rs760690837 0.00005
NM_152594.3(SPRED1):c.1260C>T (p.Tyr420=) rs202087411 0.00004
NM_152594.3(SPRED1):c.424-5A>G rs752656697 0.00004
NM_152594.3(SPRED1):c.438T>C (p.Asp146=) rs757357920 0.00004
NM_152594.3(SPRED1):c.594T>C (p.Gly198=) rs756643495 0.00004
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742 0.00004
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg) rs775334473 0.00003
NM_152594.3(SPRED1):c.306G>A (p.Thr102=) rs372791883 0.00003
NM_152594.3(SPRED1):c.583-9G>T rs1421813002 0.00003
NM_152594.3(SPRED1):c.685-10T>G rs1325841398 0.00003
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=) rs768937237 0.00002
NM_152594.3(SPRED1):c.1080A>G (p.Lys360=) rs749654043 0.00002
NM_152594.3(SPRED1):c.207+11A>T rs755730953 0.00002
NM_152594.3(SPRED1):c.426A>G (p.Ala142=) rs753701682 0.00002
NM_152594.3(SPRED1):c.633C>T (p.Tyr211=) rs149991304 0.00002
NM_152594.3(SPRED1):c.685-17A>G rs1223645192 0.00002
NM_152594.3(SPRED1):c.687C>A (p.Val229=) rs376226762 0.00002
NM_152594.3(SPRED1):c.*5202C>T rs541213700 0.00001
NM_152594.3(SPRED1):c.1146C>T (p.Asp382=) rs1286583801 0.00001
NM_152594.3(SPRED1):c.1191C>T (p.Asp397=) rs749745659 0.00001
NM_152594.3(SPRED1):c.123C>T (p.Ser41=) rs748759533 0.00001
NM_152594.3(SPRED1):c.1278C>T (p.Cys426=) rs1313604330 0.00001
NM_152594.3(SPRED1):c.15G>C (p.Thr5=) rs1278027767 0.00001
NM_152594.3(SPRED1):c.196A>C (p.Arg66=) rs751923342 0.00001
NM_152594.3(SPRED1):c.207+19A>G rs369538663 0.00001
NM_152594.3(SPRED1):c.208-6T>C rs1241478218 0.00001
NM_152594.3(SPRED1):c.27C>T (p.Asp9=) rs727504717 0.00001
NM_152594.3(SPRED1):c.321T>C (p.Ala107=) rs770197803 0.00001
NM_152594.3(SPRED1):c.33-11A>G rs775671940 0.00001
NM_152594.3(SPRED1):c.33-7A>G rs760850290 0.00001
NM_152594.3(SPRED1):c.348C>T (p.Ile116=) rs773363523 0.00001
NM_152594.3(SPRED1):c.377-19del rs1267902445 0.00001
NM_152594.3(SPRED1):c.384C>T (p.Pro128=) rs761058615 0.00001
NM_152594.3(SPRED1):c.39T>C (p.Ser13=) rs1303549798 0.00001
NM_152594.3(SPRED1):c.424-15G>A rs1438431114 0.00001
NM_152594.3(SPRED1):c.561C>T (p.Tyr187=) rs201335683 0.00001
NM_152594.3(SPRED1):c.60G>C (p.Val20=) rs367745143 0.00001
NM_152594.3(SPRED1):c.930A>G (p.Val310=) rs1164761920 0.00001
NM_152594.3(SPRED1):c.954A>G (p.Leu318=) rs753357510 0.00001
NM_152594.3(SPRED1):c.990T>G (p.Gly330=) rs1184835258 0.00001
NM_152594.3(SPRED1):c.*1659_*1662del rs57589132
NM_152594.3(SPRED1):c.*2611C>T rs181716461
NM_152594.3(SPRED1):c.*5090dup rs141174183
NM_152594.3(SPRED1):c.*581T>C rs541503324
NM_152594.3(SPRED1):c.1008A>G (p.Val336=) rs1555392775
NM_152594.3(SPRED1):c.1011C>T (p.Tyr337=)
NM_152594.3(SPRED1):c.102T>C (p.Leu34=) rs2140978435
NM_152594.3(SPRED1):c.1065T>C (p.Ala355=)
NM_152594.3(SPRED1):c.1110C>G (p.Leu370=) rs876657584
NM_152594.3(SPRED1):c.1110C>T (p.Leu370=)
NM_152594.3(SPRED1):c.1143A>C (p.Ser381=)
NM_152594.3(SPRED1):c.1158T>C (p.Asp386=) rs2141016567
NM_152594.3(SPRED1):c.1170C>G (p.Pro390=)
NM_152594.3(SPRED1):c.1170C>T (p.Pro390=)
NM_152594.3(SPRED1):c.117A>G (p.Leu39=)
NM_152594.3(SPRED1):c.1185T>C (p.Thr395=)
NM_152594.3(SPRED1):c.1185T>G (p.Thr395=)
NM_152594.3(SPRED1):c.1188C>T (p.Ser396=)
NM_152594.3(SPRED1):c.1194C>T (p.Asp398=) rs2141016629
NM_152594.3(SPRED1):c.1200C>T (p.Phe400=) rs2141016638
NM_152594.3(SPRED1):c.1203C>T (p.Cys401=)
NM_152594.3(SPRED1):c.1206G>A (p.Leu402=)
NM_152594.3(SPRED1):c.1215A>G (p.Leu405=) rs1595764001
NM_152594.3(SPRED1):c.1224A>G (p.Val408=) rs1888489718
NM_152594.3(SPRED1):c.1245A>G (p.Pro415=)
NM_152594.3(SPRED1):c.1254C>T (p.Cys418=) rs2141016717
NM_152594.3(SPRED1):c.1285T>C (p.Cys429Arg)
NM_152594.3(SPRED1):c.1296A>G (p.Ala432=) rs2141016767
NM_152594.3(SPRED1):c.1317A>G (p.Lys439=)
NM_152594.3(SPRED1):c.1329T>A (p.Ala443=)
NM_152594.3(SPRED1):c.159T>C (p.Asn53=)
NM_152594.3(SPRED1):c.174T>C (p.Phe58=) rs1595733589
NM_152594.3(SPRED1):c.207+10A>G rs918390069
NM_152594.3(SPRED1):c.207+12T>C
NM_152594.3(SPRED1):c.207+16T>G rs1322998447
NM_152594.3(SPRED1):c.207+37A>G rs2272105
NM_152594.3(SPRED1):c.208-10C>G rs1353650192
NM_152594.3(SPRED1):c.208-11G>A
NM_152594.3(SPRED1):c.208-12G>C
NM_152594.3(SPRED1):c.21T>A (p.Thr7=)
NM_152594.3(SPRED1):c.228T>A (p.Leu76=) rs763749955
NM_152594.3(SPRED1):c.279G>A (p.Lys93=) rs778384985
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met)
NM_152594.3(SPRED1):c.288C>T (p.Asp96=)
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg) rs1555391042
NM_152594.3(SPRED1):c.300T>C (p.Gly100=)
NM_152594.3(SPRED1):c.32+12A>G
NM_152594.3(SPRED1):c.32+14T>C rs2140943483
NM_152594.3(SPRED1):c.32+18C>G
NM_152594.3(SPRED1):c.32+18C>T
NM_152594.3(SPRED1):c.32+3_32+6dup
NM_152594.3(SPRED1):c.32+9C>T
NM_152594.3(SPRED1):c.33-14T>C
NM_152594.3(SPRED1):c.363G>A (p.Glu121=)
NM_152594.3(SPRED1):c.376+10C>A rs2140994968
NM_152594.3(SPRED1):c.376+17A>G
NM_152594.3(SPRED1):c.376+19T>G
NM_152594.3(SPRED1):c.376+9T>G rs1555391063
NM_152594.3(SPRED1):c.377-12C>T
NM_152594.3(SPRED1):c.377-16T>G
NM_152594.3(SPRED1):c.402T>C (p.Ala134=) rs1341388240
NM_152594.3(SPRED1):c.408G>T (p.Gly136=)
NM_152594.3(SPRED1):c.423+10G>T
NM_152594.3(SPRED1):c.423+11G>A
NM_152594.3(SPRED1):c.423+17A>G rs1263567092
NM_152594.3(SPRED1):c.423+19G>A
NM_152594.3(SPRED1):c.423+20G>A
NM_152594.3(SPRED1):c.423+8A>G rs2140996685
NM_152594.3(SPRED1):c.424-19T>C
NM_152594.3(SPRED1):c.424-19T>G
NM_152594.3(SPRED1):c.435G>A (p.Glu145=)
NM_152594.3(SPRED1):c.444C>G (p.Ser148=)
NM_152594.3(SPRED1):c.459G>A (p.Lys153=) rs1318587614
NM_152594.3(SPRED1):c.486T>G (p.Val162=) rs2141007825
NM_152594.3(SPRED1):c.510C>T (p.Ser170=) rs771673657
NM_152594.3(SPRED1):c.51G>A (p.Val17=) rs864622421
NM_152594.3(SPRED1):c.52C>A (p.Arg18=)
NM_152594.3(SPRED1):c.531C>G (p.Pro177=)
NM_152594.3(SPRED1):c.531C>T (p.Pro177=) rs1595756882
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
NM_152594.3(SPRED1):c.546T>C (p.Asn182=)
NM_152594.3(SPRED1):c.549C>T (p.Ala183=)
NM_152594.3(SPRED1):c.552A>G (p.Arg184=) rs2141007956
NM_152594.3(SPRED1):c.570C>T (p.Ser190=)
NM_152594.3(SPRED1):c.576C>T (p.Ala192=)
NM_152594.3(SPRED1):c.582+17T>A
NM_152594.3(SPRED1):c.582+18T>C
NM_152594.3(SPRED1):c.583-15T>C
NM_152594.3(SPRED1):c.583-18A>C rs2141014785
NM_152594.3(SPRED1):c.583-8T>C
NM_152594.3(SPRED1):c.588A>T (p.Thr196=)
NM_152594.3(SPRED1):c.60G>A (p.Val20=)
NM_152594.3(SPRED1):c.619A>C (p.Arg207=)
NM_152594.3(SPRED1):c.669A>G (p.Leu223=) rs774530752
NM_152594.3(SPRED1):c.684+10G>A rs1555392611
NM_152594.3(SPRED1):c.684+13A>G
NM_152594.3(SPRED1):c.685-13G>A
NM_152594.3(SPRED1):c.685-15_685-14del rs566051898
NM_152594.3(SPRED1):c.685-17A>T
NM_152594.3(SPRED1):c.687C>T (p.Val229=) rs376226762
NM_152594.3(SPRED1):c.69C>T (p.Thr23=)
NM_152594.3(SPRED1):c.751C>A (p.Arg251=) rs1172820756
NM_152594.3(SPRED1):c.753A>T (p.Arg251=)
NM_152594.3(SPRED1):c.777A>T (p.Ala259=)
NM_152594.3(SPRED1):c.843G>A (p.Gln281=) rs1373204659
NM_152594.3(SPRED1):c.852A>G (p.Lys284=)
NM_152594.3(SPRED1):c.861T>C (p.Ser287=)
NM_152594.3(SPRED1):c.879G>C (p.Leu293=)
NM_152594.3(SPRED1):c.885T>C (p.Ser295=)
NM_152594.3(SPRED1):c.888T>C (p.Cys296=)
NM_152594.3(SPRED1):c.90A>C (p.Gly30=)
NM_152594.3(SPRED1):c.912A>G (p.Ser304=) rs2141016283
NM_152594.3(SPRED1):c.915C>G (p.Pro305=) rs2141016292
NM_152594.3(SPRED1):c.939G>T (p.Thr313=) rs140644874
NM_152594.3(SPRED1):c.948C>G (p.Ser316=) rs1595763720
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala)
NM_152594.3(SPRED1):c.999T>C (p.Ser333=)
NM_152594.3(SPRED1):c.9G>A (p.Glu3=) rs1429162267

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