ClinVar Miner

List of variants in gene DSP reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 182
Download table as spreadsheet
HGVS dbSNP
NM_004415.2:c.2091A>G
NM_004415.2:c.741T>G
NM_004415.4(DSP):c.1005A>G (p.Gln335=) rs200961741
NM_004415.4(DSP):c.106G>A (p.Gly36Ser) rs1395509692
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1090A>G (p.Ile364Val) rs886038909
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) rs794728112
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg) rs769054351
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln) rs397516916
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.12C>T (p.Asn4=) rs368802003
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280
NM_004415.4(DSP):c.1410A>G (p.Lys470=) rs1554106858
NM_004415.4(DSP):c.1431T>C (p.His477=) rs1554106904
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091
NM_004415.4(DSP):c.146C>G (p.Thr49Ser) rs151153655
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.4(DSP):c.1482C>T (p.Tyr494=) rs772925425
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473
NM_004415.4(DSP):c.1695C>T (p.Ile565=) rs752714010
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.4(DSP):c.171-4T>C rs1554105598
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.4(DSP):c.1806T>C (p.Asp602=) rs560969680
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1864C>T (p.Leu622=) rs200790278
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys) rs775181391
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly) rs1261146655
NM_004415.4(DSP):c.2168T>C (p.Leu723Pro) rs1554107443
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala) rs969462343
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827
NM_004415.4(DSP):c.237C>T (p.Ser79=) rs146521568
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.4(DSP):c.2469G>A (p.Ser823=) rs368945617
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys) rs778636665
NM_004415.4(DSP):c.2547T>A (p.Tyr849Ter) rs1554107624
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) rs548695484
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.2747A>C (p.Lys916Thr) rs1554107730
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) rs397516928
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly) rs1413346143
NM_004415.4(DSP):c.3096C>T (p.Thr1032=) rs139199849
NM_004415.4(DSP):c.3102C>T (p.Ile1034=) rs569974617
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu) rs535762713
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854
NM_004415.4(DSP):c.344A>G (p.Asn115Ser) rs28763958
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964
NM_004415.4(DSP):c.363C>T (p.Leu121=) rs748204541
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) rs794728120
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665
NM_004415.4(DSP):c.3905G>A (p.Arg1302His) rs760691999
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln) rs41302883
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=) rs75537269
NM_004415.4(DSP):c.423-1G>T rs1304410089
NM_004415.4(DSP):c.4235_4237delinsG (p.Leu1412fs) rs1554108280
NM_004415.4(DSP):c.4332A>C (p.Lys1444Asn) rs1374798133
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.4353_4357del (p.Arg1452fs) rs886039009
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4377A>G (p.Thr1459=) rs771910118
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036
NM_004415.4(DSP):c.4401A>G (p.Gln1467=) rs199818953
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr) rs191778417
NM_004415.4(DSP):c.4752G>A (p.Ala1584=) rs201213622
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4836C>T (p.Ile1612=) rs886039056
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.4(DSP):c.4983C>T (p.Val1661=) rs755233649
NM_004415.4(DSP):c.5154G>A (p.Leu1718=) rs376620183
NM_004415.4(DSP):c.5161_5163GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031
NM_004415.4(DSP):c.5351T>C (p.Ile1784Thr) rs1554108491
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr) rs764279057
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.5542A>G (p.Arg1848Gly) rs886038805
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) rs550818559
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.4(DSP):c.598-4G>A rs747448946
NM_004415.4(DSP):c.5991G>A (p.Gly1997=) rs538244495
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193
NM_004415.4(DSP):c.6054C>T (p.Ile2018=) rs369700204
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly) rs760673242
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly) rs374090050
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln) rs142927608
NM_004415.4(DSP):c.61G>A (p.Glu21Lys) rs747956457
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6240C>T (p.Phe2080=) rs757650857
NM_004415.4(DSP):c.6284G>A (p.Gly2095Asp) rs1554108784
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859
NM_004415.4(DSP):c.6381C>T (p.Ala2127=) rs146315412
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969
NM_004415.4(DSP):c.6441C>T (p.Val2147=) rs762513279
NM_004415.4(DSP):c.6496C>A (p.Arg2166=) rs141026028
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106
NM_004415.4(DSP):c.667G>A (p.Gly223Ser) rs200806163
NM_004415.4(DSP):c.6772A>G (p.Ser2258Gly) rs886038842
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363
NM_004415.4(DSP):c.6927G>A (p.Arg2309=) rs747248981
NM_004415.4(DSP):c.6950_6951AG[2] (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.4(DSP):c.7347_7349GAA[1] (p.Lys2451del) rs766860183
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg) rs1346398330
NM_004415.4(DSP):c.7500A>G (p.Glu2500=) rs1554109015
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987
NM_004415.4(DSP):c.7575C>T (p.Gly2525=) rs780156504
NM_004415.4(DSP):c.7644A>T (p.Arg2548=) rs886039159
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517
NM_004415.4(DSP):c.774G>C (p.Leu258=) rs753228677
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591
NM_004415.4(DSP):c.8111_8113AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.8209G>C (p.Val2737Leu) rs149123428
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr) rs376751288
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6]) rs748194022
NM_004415.4(DSP):c.8591T>A (p.Phe2864Tyr) rs1554109334
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515
NM_004415.4(DSP):c.9C>T (p.Cys3=) rs769032973

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.