ClinVar Miner

List of variants in gene SH3PXD2B studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 355
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HGVS dbSNP gnomAD frequency
NM_001017995.3(SH3PXD2B):c.563-11T>C rs2569232 0.73618
NM_001017995.3(SH3PXD2B):c.401+165C>T rs7726175 0.54153
NM_001017995.3(SH3PXD2B):c.76-153T>G rs28414603 0.50478
NM_001017995.3(SH3PXD2B):c.156+131T>C rs6873315 0.50463
NM_001017995.3(SH3PXD2B):c.75+276T>C rs2569212 0.44569
NM_001017995.3(SH3PXD2B):c.401+274G>A rs2569226 0.44127
NM_001017995.3(SH3PXD2B):c.402-78T>C rs2731717 0.36560
NM_001017995.3(SH3PXD2B):c.76-275C>T rs28399353 0.33025
NM_001017995.3(SH3PXD2B):c.401+110G>A rs2731722 0.31693
NM_001017995.3(SH3PXD2B):c.233-285G>A rs11738073 0.29366
NM_001017995.3(SH3PXD2B):c.105C>T (p.Ser35=) rs17074773 0.29312
NM_001017995.3(SH3PXD2B):c.-67C>T rs139600850 0.28497
NM_001017995.3(SH3PXD2B):c.-167C>G rs112436148 0.28425
NM_001017995.3(SH3PXD2B):c.786-341G>T rs62385444 0.28253
NM_001017995.3(SH3PXD2B):c.1012+262A>G rs6884671 0.24020
NM_001017995.3(SH3PXD2B):c.1188+251A>G rs10051297 0.15742
NM_001017995.3(SH3PXD2B):c.1188+253C>T rs10073462 0.15268
NM_001017995.3(SH3PXD2B):c.785+264G>A rs13187132 0.09387
NM_001017995.3(SH3PXD2B):c.428-249C>T rs9313591 0.07564
NM_001017995.3(SH3PXD2B):c.-56C>G rs62385470 0.06899
NM_001017995.3(SH3PXD2B):c.310-121C>T rs114274833 0.06560
NM_001017995.3(SH3PXD2B):c.233-28A>G rs13356223 0.06542
NM_001017995.3(SH3PXD2B):c.157-116G>A rs10476024 0.06489
NM_001017995.3(SH3PXD2B):c.1063-202A>T rs116315878 0.05960
NM_001017995.3(SH3PXD2B):c.76-162G>A rs72846968 0.05277
NM_001017995.3(SH3PXD2B):c.667+138C>T rs74870739 0.05202
NM_001017995.3(SH3PXD2B):c.667+75T>C rs17703000 0.05201
NM_001017995.3(SH3PXD2B):c.563-168T>C rs75578956 0.05198
NM_001017995.3(SH3PXD2B):c.1063-80C>G rs11958108 0.05059
NM_001017995.3(SH3PXD2B):c.1063-245A>G rs17074687 0.04892
NM_001017995.3(SH3PXD2B):c.233-286C>T rs75198353 0.04057
NM_001017995.3(SH3PXD2B):c.1013-27A>G rs17074690 0.03657
NM_001017995.3(SH3PXD2B):c.75+190C>A rs145231158 0.03643
NM_001017995.3(SH3PXD2B):c.563-265C>G rs80172540 0.03606
NM_001017995.3(SH3PXD2B):c.310-295C>T rs115155020 0.03099
NM_001017995.3(SH3PXD2B):c.1188+189G>C rs57117749 0.02491
NM_001017995.3(SH3PXD2B):c.1712C>T (p.Pro571Leu) rs111230322 0.01893
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530 0.01650
NM_001017995.3(SH3PXD2B):c.1983C>T (p.Val661=) rs73317798 0.01510
NM_001017995.3(SH3PXD2B):c.-79C>A rs372849248 0.01507
NM_001017995.3(SH3PXD2B):c.1188+81T>G rs79509336 0.01467
NM_001017995.3(SH3PXD2B):c.562+50T>C rs76897113 0.01423
NM_001017995.3(SH3PXD2B):c.522C>T (p.Ser174=) rs76299613 0.01422
NM_001017995.3(SH3PXD2B):c.1063-8C>T rs76931006 0.01268
NM_001017995.3(SH3PXD2B):c.1063-9T>C rs189684298 0.01238
NM_001017995.3(SH3PXD2B):c.668-125del rs141877737 0.01166
NM_001017995.3(SH3PXD2B):c.668-241T>G rs73321647 0.01119
NM_001017995.3(SH3PXD2B):c.*14T>C rs73317794 0.01064
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796 0.01063
NM_001017995.3(SH3PXD2B):c.986C>T (p.Pro329Leu) rs75198607 0.01032
NM_001017995.3(SH3PXD2B):c.402-331A>T rs184319712 0.01019
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449 0.00992
NM_001017995.3(SH3PXD2B):c.402-204G>A rs114829454 0.00948
NM_001017995.3(SH3PXD2B):c.427+41G>A rs151165065 0.00929
NM_001017995.3(SH3PXD2B):c.428-168G>A rs116315801 0.00921
NM_001017995.3(SH3PXD2B):c.232+4G>A rs79926304 0.00899
NM_001017995.3(SH3PXD2B):c.1062+203C>T rs192999515 0.00449
NM_001017995.3(SH3PXD2B):c.1013-194G>A rs188267177 0.00416
NM_001017995.3(SH3PXD2B):c.1638G>A (p.Thr546=) rs73317800 0.00411
NM_001017995.3(SH3PXD2B):c.1333A>G (p.Thr445Ala) rs146081598 0.00344
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995 0.00215
NM_001017995.3(SH3PXD2B):c.427+14C>G rs79535495 0.00188
NM_001017995.3(SH3PXD2B):c.1089G>A (p.Pro363=) rs146385561 0.00185
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) rs148050566 0.00143
NM_001017995.3(SH3PXD2B):c.1245G>A (p.Gly415=) rs202202743 0.00121
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=) rs143850475 0.00118
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile) rs149519060 0.00118
NM_001017995.3(SH3PXD2B):c.2398G>A (p.Val800Ile) rs148498348 0.00102
NM_001017995.3(SH3PXD2B):c.612G>A (p.Thr204=) rs138884377 0.00096
NM_001017995.3(SH3PXD2B):c.2125G>A (p.Ala709Thr) rs201406507 0.00088
NM_001017995.3(SH3PXD2B):c.814G>A (p.Ala272Thr) rs201224113 0.00087
NM_001017995.3(SH3PXD2B):c.157-14C>T rs148122943 0.00082
NM_001017995.3(SH3PXD2B):c.2227G>A (p.Val743Met) rs141103005 0.00074
NM_001017995.3(SH3PXD2B):c.785+4C>G rs369555721 0.00068
NM_001017995.3(SH3PXD2B):c.996C>T (p.Asp332=) rs142552959 0.00062
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_001017995.3(SH3PXD2B):c.854C>T (p.Pro285Leu) rs141428218 0.00059
NM_001017995.3(SH3PXD2B):c.1705A>T (p.Ile569Phe) rs567930218 0.00055
NM_001017995.3(SH3PXD2B):c.76-4G>A rs144523953 0.00055
NM_001017995.3(SH3PXD2B):c.430G>T (p.Gly144Cys) rs368080609 0.00051
NM_001017995.3(SH3PXD2B):c.1128C>T (p.Ile376=) rs115874629 0.00050
NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln) rs144659619 0.00048
NM_001017995.3(SH3PXD2B):c.1155C>T (p.Asp385=) rs141890300 0.00043
NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr) rs142779141 0.00041
NM_001017995.3(SH3PXD2B):c.1141A>G (p.Thr381Ala) rs150648145 0.00038
NM_001017995.3(SH3PXD2B):c.1512G>A (p.Ala504=) rs140645910 0.00032
NM_001017995.3(SH3PXD2B):c.2569G>T (p.Ala857Ser) rs150789109 0.00027
NM_001017995.3(SH3PXD2B):c.563-16A>G rs551897775 0.00027
NM_001017995.3(SH3PXD2B):c.693G>A (p.Pro231=) rs143272304 0.00026
NM_001017995.3(SH3PXD2B):c.2647A>G (p.Ser883Gly) rs200423669 0.00024
NM_001017995.3(SH3PXD2B):c.1343G>A (p.Arg448Gln) rs141993560 0.00021
NM_001017995.3(SH3PXD2B):c.1021A>G (p.Lys341Glu) rs145343254 0.00019
NM_001017995.3(SH3PXD2B):c.1050G>A (p.Arg350=) rs144361577 0.00019
NM_001017995.3(SH3PXD2B):c.2189C>T (p.Pro730Leu) rs766153965 0.00019
NM_001017995.3(SH3PXD2B):c.970C>T (p.Arg324Trp) rs199739437 0.00018
NM_001017995.3(SH3PXD2B):c.1013-10T>G rs374046059 0.00014
NM_001017995.3(SH3PXD2B):c.2578G>A (p.Asp860Asn) rs765472301 0.00014
NM_001017995.3(SH3PXD2B):c.1013-3T>C rs752701208 0.00012
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=) rs780292269 0.00012
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=) rs140209484 0.00011
NM_001017995.3(SH3PXD2B):c.262C>T (p.Arg88Trp) rs191035319 0.00011
NM_001017995.3(SH3PXD2B):c.453C>T (p.Pro151=) rs143060223 0.00011
NM_001017995.3(SH3PXD2B):c.997G>A (p.Gly333Ser) rs138316493 0.00011
NM_001017995.3(SH3PXD2B):c.1403G>A (p.Arg468Gln) rs144424788 0.00010
NM_001017995.3(SH3PXD2B):c.1596G>A (p.Ser532=) rs539320171 0.00010
NM_001017995.3(SH3PXD2B):c.66C>T (p.Asn22=) rs762908120 0.00010
NM_001017995.3(SH3PXD2B):c.1067G>A (p.Arg356Gln) rs145215054 0.00009
NM_001017995.3(SH3PXD2B):c.1648C>T (p.Arg550Trp) rs374594864 0.00009
NM_001017995.3(SH3PXD2B):c.1988T>C (p.Ile663Thr) rs148816682 0.00009
NM_001017995.3(SH3PXD2B):c.966C>T (p.Asp322=) rs375297664 0.00009
NM_001017995.3(SH3PXD2B):c.987G>A (p.Pro329=) rs372347030 0.00007
NM_001017995.3(SH3PXD2B):c.1326C>T (p.His442=) rs201324424 0.00006
NM_001017995.3(SH3PXD2B):c.1362G>A (p.Ala454=) rs772466608 0.00006
NM_001017995.3(SH3PXD2B):c.1685C>A (p.Pro562Gln) rs147475342 0.00006
NM_001017995.3(SH3PXD2B):c.2381C>G (p.Pro794Arg) rs753753762 0.00006
NM_001017995.3(SH3PXD2B):c.233-14C>G rs373422860 0.00005
NM_001017995.3(SH3PXD2B):c.926C>T (p.Ala309Val) rs755251609 0.00005
NM_001017995.3(SH3PXD2B):c.1492G>A (p.Ala498Thr) rs201272196 0.00004
NM_001017995.3(SH3PXD2B):c.1838G>A (p.Arg613Gln) rs745393171 0.00004
NM_001017995.3(SH3PXD2B):c.1887C>T (p.Ala629=) rs768244453 0.00004
NM_001017995.3(SH3PXD2B):c.1956G>A (p.Thr652=) rs374735849 0.00004
NM_001017995.3(SH3PXD2B):c.2122C>T (p.Arg708Cys) rs545491323 0.00004
NM_001017995.3(SH3PXD2B):c.2124C>T (p.Arg708=) rs370525113 0.00004
NM_001017995.3(SH3PXD2B):c.2128C>G (p.Gln710Glu) rs140679646 0.00004
NM_001017995.3(SH3PXD2B):c.2320C>A (p.Pro774Thr) rs753041286 0.00004
NM_001017995.3(SH3PXD2B):c.2454G>A (p.Thr818=) rs147491999 0.00004
NM_001017995.3(SH3PXD2B):c.2456G>A (p.Arg819Gln) rs200899339 0.00004
NM_001017995.3(SH3PXD2B):c.329C>G (p.Pro110Arg) rs776745582 0.00004
NM_001017995.3(SH3PXD2B):c.967G>A (p.Gly323Arg) rs111492578 0.00004
NM_001017995.3(SH3PXD2B):c.1440G>A (p.Ser480=) rs755156898 0.00003
NM_001017995.3(SH3PXD2B):c.1718G>A (p.Arg573Gln) rs147231839 0.00003
NM_001017995.3(SH3PXD2B):c.1860T>C (p.Thr620=) rs907335200 0.00003
NM_001017995.3(SH3PXD2B):c.2577C>T (p.Ala859=) rs773244457 0.00003
NM_001017995.3(SH3PXD2B):c.267C>T (p.Asp89=) rs376712965 0.00003
NM_001017995.3(SH3PXD2B):c.2733G>A (p.Pro911=) rs368300585 0.00003
NM_001017995.3(SH3PXD2B):c.402-18C>G rs371085113 0.00003
NM_001017995.3(SH3PXD2B):c.667+9G>C rs752331625 0.00003
NM_001017995.3(SH3PXD2B):c.785+14C>T rs777843487 0.00003
NM_001017995.3(SH3PXD2B):c.924C>T (p.Asn308=) rs1199607816 0.00003
NM_001017995.3(SH3PXD2B):c.1129G>A (p.Ala377Thr) rs779664507 0.00002
NM_001017995.3(SH3PXD2B):c.1186G>A (p.Glu396Lys) rs369123624 0.00002
NM_001017995.3(SH3PXD2B):c.119C>T (p.Ala40Val) rs1469770083 0.00002
NM_001017995.3(SH3PXD2B):c.1439C>T (p.Ser480Leu) rs781378826 0.00002
NM_001017995.3(SH3PXD2B):c.1475A>C (p.Lys492Thr) rs753812941 0.00002
NM_001017995.3(SH3PXD2B):c.2226C>T (p.Ser742=) rs1039344303 0.00002
NM_001017995.3(SH3PXD2B):c.429G>C (p.Gly143=) rs370913076 0.00002
NM_001017995.3(SH3PXD2B):c.42C>T (p.Asp14=) rs201996778 0.00002
NM_001017995.3(SH3PXD2B):c.667+12C>T rs759840351 0.00002
NM_001017995.3(SH3PXD2B):c.901G>A (p.Asp301Asn) rs745483057 0.00002
NM_001017995.3(SH3PXD2B):c.95C>T (p.Thr32Met) rs201677427 0.00002
NM_001017995.3(SH3PXD2B):c.1132G>A (p.Glu378Lys) rs1193667826 0.00001
NM_001017995.3(SH3PXD2B):c.114C>T (p.Thr38=) rs777744567 0.00001
NM_001017995.3(SH3PXD2B):c.1188+13G>A rs141265263 0.00001
NM_001017995.3(SH3PXD2B):c.1342C>T (p.Arg448Trp) rs552171716 0.00001
NM_001017995.3(SH3PXD2B):c.1344G>T (p.Arg448=) rs1190874408 0.00001
NM_001017995.3(SH3PXD2B):c.1473T>C (p.Ser491=) rs757070175 0.00001
NM_001017995.3(SH3PXD2B):c.1587C>T (p.Ile529=) rs754509580 0.00001
NM_001017995.3(SH3PXD2B):c.1616G>A (p.Arg539Gln) rs886239248 0.00001
NM_001017995.3(SH3PXD2B):c.1621C>T (p.Arg541Trp) rs1378037423 0.00001
NM_001017995.3(SH3PXD2B):c.1943C>T (p.Pro648Leu) rs753591975 0.00001
NM_001017995.3(SH3PXD2B):c.1971C>T (p.Gly657=) rs748522040 0.00001
NM_001017995.3(SH3PXD2B):c.1994A>G (p.Asn665Ser) rs144252446 0.00001
NM_001017995.3(SH3PXD2B):c.2037C>T (p.Ser679=) rs772716953 0.00001
NM_001017995.3(SH3PXD2B):c.2096G>A (p.Ser699Asn) rs747456932 0.00001
NM_001017995.3(SH3PXD2B):c.212G>A (p.Arg71Gln) rs200536170 0.00001
NM_001017995.3(SH3PXD2B):c.2190G>A (p.Pro730=) rs758320891 0.00001
NM_001017995.3(SH3PXD2B):c.2278C>T (p.Arg760Cys) rs199590644 0.00001
NM_001017995.3(SH3PXD2B):c.233-11A>G rs750761689 0.00001
NM_001017995.3(SH3PXD2B):c.2345A>G (p.Gln782Arg) rs373458298 0.00001
NM_001017995.3(SH3PXD2B):c.2395C>T (p.Leu799Phe) rs562915075 0.00001
NM_001017995.3(SH3PXD2B):c.2487C>T (p.Thr829=) rs766920772 0.00001
NM_001017995.3(SH3PXD2B):c.250C>T (p.Arg84Ter) rs61755907 0.00001
NM_001017995.3(SH3PXD2B):c.2635C>T (p.Arg879Trp) rs767729554 0.00001
NM_001017995.3(SH3PXD2B):c.2670G>C (p.Gln890His) rs1172633904 0.00001
NM_001017995.3(SH3PXD2B):c.2680G>A (p.Gly894Arg) rs774654339 0.00001
NM_001017995.3(SH3PXD2B):c.2728A>T (p.Lys910Ter) rs1311349405 0.00001
NM_001017995.3(SH3PXD2B):c.310-15G>A rs767448840 0.00001
NM_001017995.3(SH3PXD2B):c.450C>T (p.Asp150=) rs886060425 0.00001
NM_001017995.3(SH3PXD2B):c.455T>C (p.Met152Thr) rs1307603928 0.00001
NM_001017995.3(SH3PXD2B):c.574G>A (p.Val192Ile) rs763810720 0.00001
NM_001017995.3(SH3PXD2B):c.667+14C>T rs886060424 0.00001
NM_001017995.3(SH3PXD2B):c.741G>C (p.Val247=) rs1757215354 0.00001
NM_001017995.3(SH3PXD2B):c.785+10G>A rs749255187 0.00001
NM_001017995.3(SH3PXD2B):c.794G>A (p.Gly265Asp) rs1193860375 0.00001
NM_001017995.3(SH3PXD2B):c.845C>A (p.Pro282His) rs764252514 0.00001
NM_001017995.3(SH3PXD2B):c.921G>C (p.Gln307His) rs756260892 0.00001
NM_001017995.3(SH3PXD2B):c.96G>A (p.Thr32=) rs1032135775 0.00001
NM_001017995.3(SH3PXD2B):c.-142_-131dup
NM_001017995.3(SH3PXD2B):c.1002C>T (p.Asp334=)
NM_001017995.3(SH3PXD2B):c.1012+14G>A
NM_001017995.3(SH3PXD2B):c.1012+19A>G
NM_001017995.3(SH3PXD2B):c.1012+7G>T
NM_001017995.3(SH3PXD2B):c.1059C>T (p.Thr353=)
NM_001017995.3(SH3PXD2B):c.1063-7G>A rs186443822
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT rs797044638
NM_001017995.3(SH3PXD2B):c.1082C>T (p.Pro361Leu)
NM_001017995.3(SH3PXD2B):c.1083G>A (p.Pro361=)
NM_001017995.3(SH3PXD2B):c.1093_1101dup (p.Ile365_Pro367dup) rs2113275048
NM_001017995.3(SH3PXD2B):c.1098G>A (p.Pro366=)
NM_001017995.3(SH3PXD2B):c.1102del (p.Gln368fs) rs886043480
NM_001017995.3(SH3PXD2B):c.1149C>T (p.Ile383=)
NM_001017995.3(SH3PXD2B):c.1156G>A (p.Gly386Ser)
NM_001017995.3(SH3PXD2B):c.1221C>T (p.Tyr407=)
NM_001017995.3(SH3PXD2B):c.1253C>A (p.Pro418Gln)
NM_001017995.3(SH3PXD2B):c.1284G>A (p.Thr428=) rs3812017
NM_001017995.3(SH3PXD2B):c.1284G>C (p.Thr428=) rs3812017
NM_001017995.3(SH3PXD2B):c.128G>A (p.Arg43Gln)
NM_001017995.3(SH3PXD2B):c.1292C>T (p.Ala431Val)
NM_001017995.3(SH3PXD2B):c.1293G>A (p.Ala431=)
NM_001017995.3(SH3PXD2B):c.1308T>C (p.Phe436=) rs2113256504
NM_001017995.3(SH3PXD2B):c.1317C>T (p.Pro439=) rs2113256466
NM_001017995.3(SH3PXD2B):c.1362G>T (p.Ala454=) rs772466608
NM_001017995.3(SH3PXD2B):c.1372A>G (p.Asn458Asp) rs2113256198
NM_001017995.3(SH3PXD2B):c.1376C>T (p.Thr459Met)
NM_001017995.3(SH3PXD2B):c.1381_1395dup (p.Gly465_Pro466insSerGluAlaThrGly)
NM_001017995.3(SH3PXD2B):c.1383C>T (p.Ser461=)
NM_001017995.3(SH3PXD2B):c.1392G>A (p.Thr464=)
NM_001017995.3(SH3PXD2B):c.1398C>G (p.Pro466=) rs140209484
NM_001017995.3(SH3PXD2B):c.1401C>T (p.Ser467=)
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=) rs199727236
NM_001017995.3(SH3PXD2B):c.1447C>T (p.Pro483Ser)
NM_001017995.3(SH3PXD2B):c.1462T>C (p.Trp488Arg) rs200664799
NM_001017995.3(SH3PXD2B):c.1514C>T (p.Ser505Leu)
NM_001017995.3(SH3PXD2B):c.1560C>T (p.Pro520=)
NM_001017995.3(SH3PXD2B):c.157-13G>A
NM_001017995.3(SH3PXD2B):c.157-4T>G
NM_001017995.3(SH3PXD2B):c.157-7del rs1441666743
NM_001017995.3(SH3PXD2B):c.1572G>A (p.Pro524=) rs199691305
NM_001017995.3(SH3PXD2B):c.15C>G (p.Arg5=)
NM_001017995.3(SH3PXD2B):c.1600G>A (p.Gly534Arg) rs1756799495
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[2] (p.538ER[2]) rs534091900
NM_001017995.3(SH3PXD2B):c.1612GAGCGG[4] (p.538ER[4]) rs534091900
NM_001017995.3(SH3PXD2B):c.1615C>T (p.Arg539Trp) rs199704139
NM_001017995.3(SH3PXD2B):c.1622G>A (p.Arg541Gln)
NM_001017995.3(SH3PXD2B):c.1628G>A (p.Arg543Gln)
NM_001017995.3(SH3PXD2B):c.1666C>G (p.Pro556Ala) rs1756793355
NM_001017995.3(SH3PXD2B):c.1672G>A (p.Gly558Ser) rs536952235
NM_001017995.3(SH3PXD2B):c.1678A>T (p.Ile560Phe) rs1581259156
NM_001017995.3(SH3PXD2B):c.1717C>A (p.Arg573=)
NM_001017995.3(SH3PXD2B):c.1730G>T (p.Arg577Met) rs761259375
NM_001017995.3(SH3PXD2B):c.1888A>T (p.Thr630Ser)
NM_001017995.3(SH3PXD2B):c.1902C>T (p.Pro634=)
NM_001017995.3(SH3PXD2B):c.1906T>G (p.Leu636Val)
NM_001017995.3(SH3PXD2B):c.1923G>A (p.Gln641=)
NM_001017995.3(SH3PXD2B):c.1936C>T (p.Pro646Ser)
NM_001017995.3(SH3PXD2B):c.1939G>C (p.Ala647Pro)
NM_001017995.3(SH3PXD2B):c.1986C>T (p.Asp662=)
NM_001017995.3(SH3PXD2B):c.1993A>T (p.Asn665Tyr)
NM_001017995.3(SH3PXD2B):c.1998C>G (p.Leu666=) rs1581258746
NM_001017995.3(SH3PXD2B):c.2018C>T (p.Ala673Val) rs571908508
NM_001017995.3(SH3PXD2B):c.2034G>A (p.Lys678=)
NM_001017995.3(SH3PXD2B):c.2079C>T (p.Asp693=)
NM_001017995.3(SH3PXD2B):c.2117C>G (p.Pro706Arg)
NM_001017995.3(SH3PXD2B):c.2139G>C (p.Thr713=)
NM_001017995.3(SH3PXD2B):c.2175C>T (p.Ser725=)
NM_001017995.3(SH3PXD2B):c.2180G>C (p.Arg727Thr)
NM_001017995.3(SH3PXD2B):c.21C>T (p.Ile7=)
NM_001017995.3(SH3PXD2B):c.2243A>T (p.Gln748Leu)
NM_001017995.3(SH3PXD2B):c.228G>A (p.Leu76=)
NM_001017995.3(SH3PXD2B):c.2310G>A (p.Ser770=)
NM_001017995.3(SH3PXD2B):c.232+11T>C rs2113429390
NM_001017995.3(SH3PXD2B):c.232+19C>T rs752225117
NM_001017995.3(SH3PXD2B):c.2322G>A (p.Pro774=)
NM_001017995.3(SH3PXD2B):c.2328A>G (p.Pro776=)
NM_001017995.3(SH3PXD2B):c.233-16C>T
NM_001017995.3(SH3PXD2B):c.2359G>A (p.Glu787Lys)
NM_001017995.3(SH3PXD2B):c.2359G>T (p.Glu787Ter) rs142818364
NM_001017995.3(SH3PXD2B):c.2387G>A (p.Arg796His)
NM_001017995.3(SH3PXD2B):c.2392CTC[1] (p.Leu799del) rs759973468
NM_001017995.3(SH3PXD2B):c.2396_2405dup (p.Lys803fs)
NM_001017995.3(SH3PXD2B):c.2397C>T (p.Leu799=)
NM_001017995.3(SH3PXD2B):c.2409del (p.Ala804fs)
NM_001017995.3(SH3PXD2B):c.2416C>A (p.Pro806Thr) rs372034716
NM_001017995.3(SH3PXD2B):c.2416C>T (p.Pro806Ser) rs372034716
NM_001017995.3(SH3PXD2B):c.2437G>A (p.Gly813Arg)
NM_001017995.3(SH3PXD2B):c.2449G>C (p.Asp817His) rs2113250970
NM_001017995.3(SH3PXD2B):c.2506A>G (p.Arg836Gly) rs1327344968
NM_001017995.3(SH3PXD2B):c.2537A>G (p.Asn846Ser)
NM_001017995.3(SH3PXD2B):c.2544C>A (p.Asp848Glu) rs149498667
NM_001017995.3(SH3PXD2B):c.2544C>T (p.Asp848=) rs149498667
NM_001017995.3(SH3PXD2B):c.2545G>A (p.Gly849Ser)
NM_001017995.3(SH3PXD2B):c.2570C>T (p.Ala857Val)
NM_001017995.3(SH3PXD2B):c.2572G>A (p.Val858Met)
NM_001017995.3(SH3PXD2B):c.2592C>A (p.Asp864Glu) rs1756757651
NM_001017995.3(SH3PXD2B):c.2596G>C (p.Asp866His) rs2113250267
NM_001017995.3(SH3PXD2B):c.2601C>G (p.Thr867=) rs372013791
NM_001017995.3(SH3PXD2B):c.260T>C (p.Ile87Thr)
NM_001017995.3(SH3PXD2B):c.2618G>C (p.Gly873Ala) rs1428244591
NM_001017995.3(SH3PXD2B):c.2626_2629del (p.Phe876fs) rs551498843
NM_001017995.3(SH3PXD2B):c.2643G>C (p.Lys881Asn)
NM_001017995.3(SH3PXD2B):c.2653G>A (p.Gly885Ser)
NM_001017995.3(SH3PXD2B):c.2702G>T (p.Trp901Leu)
NM_001017995.3(SH3PXD2B):c.270G>A (p.Val90=)
NM_001017995.3(SH3PXD2B):c.2714A>G (p.Asn905Ser)
NM_001017995.3(SH3PXD2B):c.2732C>T (p.Pro911Leu)
NM_001017995.3(SH3PXD2B):c.309+167_309+170del rs111288764
NM_001017995.3(SH3PXD2B):c.310-2A>G
NM_001017995.3(SH3PXD2B):c.325C>T (p.Pro109Ser)
NM_001017995.3(SH3PXD2B):c.329C>A (p.Pro110His)
NM_001017995.3(SH3PXD2B):c.330del (p.Tyr111fs)
NM_001017995.3(SH3PXD2B):c.339T>C (p.Ser113=)
NM_001017995.3(SH3PXD2B):c.354G>A (p.Val118=) rs2113372969
NM_001017995.3(SH3PXD2B):c.36G>C (p.Val12=) rs2113530783
NM_001017995.3(SH3PXD2B):c.376C>A (p.Pro126Thr) rs1362048606
NM_001017995.3(SH3PXD2B):c.37C>T (p.Leu13=)
NM_001017995.3(SH3PXD2B):c.395C>A (p.Pro132His) rs778527787
NM_001017995.3(SH3PXD2B):c.396dup (p.Lys133fs) rs765784096
NM_001017995.3(SH3PXD2B):c.401+11_401+14del
NM_001017995.3(SH3PXD2B):c.401+13G>T
NM_001017995.3(SH3PXD2B):c.402-6G>C
NM_001017995.3(SH3PXD2B):c.412G>T (p.Gly138Trp) rs865941777
NM_001017995.3(SH3PXD2B):c.423A>G (p.Lys141=)
NM_001017995.3(SH3PXD2B):c.427+14C>T rs79535495
NM_001017995.3(SH3PXD2B):c.427+170GATG[11] rs10625047
NM_001017995.3(SH3PXD2B):c.427+170GATG[12] rs10625047
NM_001017995.3(SH3PXD2B):c.427+170GATG[5] rs10625047
NM_001017995.3(SH3PXD2B):c.428-395T>C rs2113324065
NM_001017995.3(SH3PXD2B):c.428G>T (p.Gly143Val)
NM_001017995.3(SH3PXD2B):c.433G>A (p.Asp145Asn)
NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=)
NM_001017995.3(SH3PXD2B):c.498G>A (p.Gln166=)
NM_001017995.3(SH3PXD2B):c.510G>A (p.Glu170=)
NM_001017995.3(SH3PXD2B):c.562+5G>A
NM_001017995.3(SH3PXD2B):c.563-18G>T rs2113311397
NM_001017995.3(SH3PXD2B):c.564T>C (p.Gly188=)
NM_001017995.3(SH3PXD2B):c.573C>T (p.Phe191=)
NM_001017995.3(SH3PXD2B):c.585C>G (p.Ala195=)
NM_001017995.3(SH3PXD2B):c.585C>T (p.Ala195=)
NM_001017995.3(SH3PXD2B):c.632G>A (p.Gly211Glu) rs1757337564
NM_001017995.3(SH3PXD2B):c.657G>T (p.Gln219His) rs1757336659
NM_001017995.3(SH3PXD2B):c.668-124dup rs11402887
NM_001017995.3(SH3PXD2B):c.668-16C>T
NM_001017995.3(SH3PXD2B):c.675G>A (p.Lys225=) rs780864607
NM_001017995.3(SH3PXD2B):c.692C>A (p.Pro231Gln) rs1376425621
NM_001017995.3(SH3PXD2B):c.731G>A (p.Arg244Lys)
NM_001017995.3(SH3PXD2B):c.75+148del rs146712497
NM_001017995.3(SH3PXD2B):c.75+18C>G
NM_001017995.3(SH3PXD2B):c.75+20del rs749883884
NM_001017995.3(SH3PXD2B):c.76-10G>C rs1474247036
NM_001017995.3(SH3PXD2B):c.76-5C>T
NM_001017995.3(SH3PXD2B):c.782T>G (p.Ile261Ser)
NM_001017995.3(SH3PXD2B):c.785+19C>G
NM_001017995.3(SH3PXD2B):c.786-309C>A rs144147623
NM_001017995.3(SH3PXD2B):c.813C>T (p.Pro271=) rs1357763254
NM_001017995.3(SH3PXD2B):c.816C>T (p.Ala272=)
NM_001017995.3(SH3PXD2B):c.828GAA[1] (p.Lys277del)
NM_001017995.3(SH3PXD2B):c.846del (p.Leu283fs) rs886042037
NM_001017995.3(SH3PXD2B):c.855G>A (p.Pro285=)
NM_001017995.3(SH3PXD2B):c.884C>A (p.Pro295Gln) rs77955907
NM_001017995.3(SH3PXD2B):c.884C>T (p.Pro295Leu) rs77955907
NM_001017995.3(SH3PXD2B):c.885G>A (p.Pro295=) rs145767631
NM_001017995.3(SH3PXD2B):c.927G>A (p.Ala309=)
NM_001017995.3(SH3PXD2B):c.945G>A (p.Glu315=)
NM_001017995.3(SH3PXD2B):c.971G>A (p.Arg324Gln)

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