ClinVar Miner

List of variants in gene SH3PXD2B reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP gnomAD frequency
NM_001017995.3(SH3PXD2B):c.*1199T>C rs10050631 0.60340
NM_001017995.3(SH3PXD2B):c.-167C>G rs112436148 0.28425
NM_001017995.3(SH3PXD2B):c.*2449G>T rs182625015 0.00415
NM_001017995.3(SH3PXD2B):c.*2262G>A rs115503927 0.00373
NM_001017995.3(SH3PXD2B):c.*2469C>T rs116591814 0.00299
NM_001017995.3(SH3PXD2B):c.*2885A>T rs186204526 0.00267
NM_001017995.3(SH3PXD2B):c.*4736A>G rs527408109 0.00161
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) rs148050566 0.00143
NM_001017995.3(SH3PXD2B):c.*877G>A rs562551012 0.00128
NM_001017995.3(SH3PXD2B):c.*2275G>C rs543454877 0.00122
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.*4102G>T rs569577287 0.00096
NM_001017995.3(SH3PXD2B):c.*4283G>A rs181895676 0.00091
NM_001017995.3(SH3PXD2B):c.814G>A (p.Ala272Thr) rs201224113 0.00087
NM_001017995.3(SH3PXD2B):c.*4420A>G rs564001567 0.00086
NM_001017995.3(SH3PXD2B):c.*707C>T rs7705886 0.00083
NM_001017995.3(SH3PXD2B):c.*2543A>G rs545661827 0.00078
NM_001017995.3(SH3PXD2B):c.785+4C>G rs369555721 0.00068
NM_001017995.3(SH3PXD2B):c.*2676G>A rs553703806 0.00064
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.76-4G>A rs144523953 0.00055
NM_001017995.3(SH3PXD2B):c.*3358G>A rs148268201 0.00053
NM_001017995.3(SH3PXD2B):c.2093G>A (p.Arg698Gln) rs144659619 0.00048
NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr) rs142779141 0.00041
NM_001017995.3(SH3PXD2B):c.*2684G>A rs746018462 0.00039
NM_001017995.3(SH3PXD2B):c.1141A>G (p.Thr381Ala) rs150648145 0.00038
NM_001017995.3(SH3PXD2B):c.*323C>T rs886060420 0.00032
NM_001017995.3(SH3PXD2B):c.1512G>A (p.Ala504=) rs140645910 0.00032
NM_001017995.3(SH3PXD2B):c.*1607A>G rs537907753 0.00031
NM_001017995.3(SH3PXD2B):c.*2438A>G rs760267846 0.00029
NM_001017995.3(SH3PXD2B):c.2569G>T (p.Ala857Ser) rs150789109 0.00027
NM_001017995.3(SH3PXD2B):c.*3595G>A rs764695584 0.00026
NM_001017995.3(SH3PXD2B):c.693G>A (p.Pro231=) rs143272304 0.00026
NM_001017995.3(SH3PXD2B):c.*3714C>T rs763489617 0.00024
NM_001017995.3(SH3PXD2B):c.*1429C>T rs189080320 0.00023
NM_001017995.3(SH3PXD2B):c.-40C>T rs766273502 0.00022
NM_001017995.3(SH3PXD2B):c.*3411G>A rs143165580 0.00021
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.2189C>T (p.Pro730Leu) rs766153965 0.00019
NM_001017995.3(SH3PXD2B):c.*1751T>C rs933182889 0.00017
NM_001017995.3(SH3PXD2B):c.*698C>T rs563375592 0.00017
NM_001017995.3(SH3PXD2B):c.*4561G>A rs755005384 0.00014
NM_001017995.3(SH3PXD2B):c.2578G>A (p.Asp860Asn) rs765472301 0.00014
NM_001017995.3(SH3PXD2B):c.*3359C>T rs886060411 0.00013
NM_001017995.3(SH3PXD2B):c.*3365A>G rs766100701 0.00013
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.*2066G>T rs761912938 0.00010
NM_001017995.3(SH3PXD2B):c.*600G>C rs1000527973 0.00010
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.*2826G>A rs574402138 0.00009
NM_001017995.3(SH3PXD2B):c.*902G>A rs1030376142 0.00009
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.*1913C>T rs751403291 0.00008
NM_001017995.3(SH3PXD2B):c.*300G>A rs182912323 0.00008
NM_001017995.3(SH3PXD2B):c.*3226C>A rs188985186 0.00007
NM_001017995.3(SH3PXD2B):c.1326C>T (p.His442=) rs201324424 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.*1430G>A rs569099248 0.00005
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.*1379T>C rs572250218 0.00004
NM_001017995.3(SH3PXD2B):c.*3388C>T rs989362848 0.00004
NM_001017995.3(SH3PXD2B):c.*4489C>T rs929924726 0.00004
NM_001017995.3(SH3PXD2B):c.*4665_*4668del rs550289556 0.00004
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.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.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.*1346G>A rs886060415 0.00003
NM_001017995.3(SH3PXD2B):c.*2203T>C rs542106715 0.00003
NM_001017995.3(SH3PXD2B):c.*2991T>G rs886060412 0.00003
NM_001017995.3(SH3PXD2B):c.*4805G>A rs886060406 0.00003
NM_001017995.3(SH3PXD2B):c.*636G>A rs564486072 0.00003
NM_001017995.3(SH3PXD2B):c.1671G>A (p.Pro557=) rs765762255 0.00003
NM_001017995.3(SH3PXD2B):c.1718G>A (p.Arg573Gln) rs147231839 0.00003
NM_001017995.3(SH3PXD2B):c.*158G>A rs1449362212 0.00002
NM_001017995.3(SH3PXD2B):c.*2355G>C rs1455968501 0.00002
NM_001017995.3(SH3PXD2B):c.*3227C>G rs1382165385 0.00002
NM_001017995.3(SH3PXD2B):c.*3858G>C rs1030131223 0.00002
NM_001017995.3(SH3PXD2B):c.1088C>T (p.Pro363Leu) rs372893835 0.00002
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.1984G>A (p.Asp662Asn) rs752042835 0.00002
NM_001017995.3(SH3PXD2B):c.42C>T (p.Asp14=) rs201996778 0.00002
NM_001017995.3(SH3PXD2B):c.901G>A (p.Asp301Asn) rs745483057 0.00002
NM_001017995.3(SH3PXD2B):c.*1246G>A rs776059475 0.00001
NM_001017995.3(SH3PXD2B):c.*2740A>G rs966705943 0.00001
NM_001017995.3(SH3PXD2B):c.*2825C>T rs915352896 0.00001
NM_001017995.3(SH3PXD2B):c.*2956G>A rs886060413 0.00001
NM_001017995.3(SH3PXD2B):c.*3363T>C rs530641139 0.00001
NM_001017995.3(SH3PXD2B):c.*3935C>T rs886060409 0.00001
NM_001017995.3(SH3PXD2B):c.*4079C>T rs886060408 0.00001
NM_001017995.3(SH3PXD2B):c.1126A>G (p.Ile376Val) rs886060423 0.00001
NM_001017995.3(SH3PXD2B):c.1132G>A (p.Glu378Lys) rs1193667826 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.1472G>A (p.Ser491Asn) rs886060422 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.1994A>G (p.Asn665Ser) rs144252446 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.2278C>T (p.Arg760Cys) rs199590644 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.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.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.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.*1125G>A rs886060416
NM_001017995.3(SH3PXD2B):c.*1633C>T rs562026667
NM_001017995.3(SH3PXD2B):c.*1692G>T rs1426550561
NM_001017995.3(SH3PXD2B):c.*1862G>A rs139756702
NM_001017995.3(SH3PXD2B):c.*1862G>T rs139756702
NM_001017995.3(SH3PXD2B):c.*1928A>G rs1756692680
NM_001017995.3(SH3PXD2B):c.*2031C>T rs1581256488
NM_001017995.3(SH3PXD2B):c.*2309A>T rs886060414
NM_001017995.3(SH3PXD2B):c.*3191C>T rs1461269348
NM_001017995.3(SH3PXD2B):c.*3327A>T rs1756654701
NM_001017995.3(SH3PXD2B):c.*3621G>A rs886060410
NM_001017995.3(SH3PXD2B):c.*3643A>T rs1756647025
NM_001017995.3(SH3PXD2B):c.*4266G>T rs919966597
NM_001017995.3(SH3PXD2B):c.*4328C>T rs572423054
NM_001017995.3(SH3PXD2B):c.*4693C>T rs886060407
NM_001017995.3(SH3PXD2B):c.*4773G>C rs146679204
NM_001017995.3(SH3PXD2B):c.*4828dup rs35951290
NM_001017995.3(SH3PXD2B):c.*589C>T rs886060419
NM_001017995.3(SH3PXD2B):c.*636G>T rs564486072
NM_001017995.3(SH3PXD2B):c.*652_*654dup rs886060418
NM_001017995.3(SH3PXD2B):c.*861C>T rs886060417
NM_001017995.3(SH3PXD2B):c.-130C>G rs1362824889
NM_001017995.3(SH3PXD2B):c.-162C>G rs1299772895
NM_001017995.3(SH3PXD2B):c.1012+1G>T
NM_001017995.3(SH3PXD2B):c.1027A>G (p.Arg343Gly) rs1490267498
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.1093_1101dup (p.Ile365_Pro367dup) rs2113275048
NM_001017995.3(SH3PXD2B):c.1102del (p.Gln368fs) rs886043480
NM_001017995.3(SH3PXD2B):c.1156G>A (p.Gly386Ser)
NM_001017995.3(SH3PXD2B):c.1229T>C (p.Ile410Thr)
NM_001017995.3(SH3PXD2B):c.1253C>A (p.Pro418Gln)
NM_001017995.3(SH3PXD2B):c.1264A>G (p.Ile422Val)
NM_001017995.3(SH3PXD2B):c.128G>A (p.Arg43Gln)
NM_001017995.3(SH3PXD2B):c.1292C>T (p.Ala431Val)
NM_001017995.3(SH3PXD2B):c.1326C>A (p.His442Gln) rs201324424
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.1421C>T (p.Pro474Leu)
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=) rs199727236
NM_001017995.3(SH3PXD2B):c.1433T>G (p.Met478Arg)
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.1554G>A (p.Glu518=) rs886060421
NM_001017995.3(SH3PXD2B):c.1600G>A (p.Gly534Arg) rs1756799495
NM_001017995.3(SH3PXD2B):c.1610T>G (p.Leu537Arg) rs1027394288
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.1678A>T (p.Ile560Phe) rs1581259156
NM_001017995.3(SH3PXD2B):c.1730G>T (p.Arg577Met) rs761259375
NM_001017995.3(SH3PXD2B):c.1736A>G (p.Glu579Gly)
NM_001017995.3(SH3PXD2B):c.1888A>T (p.Thr630Ser)
NM_001017995.3(SH3PXD2B):c.1906T>G (p.Leu636Val)
NM_001017995.3(SH3PXD2B):c.1936C>T (p.Pro646Ser)
NM_001017995.3(SH3PXD2B):c.1939G>C (p.Ala647Pro)
NM_001017995.3(SH3PXD2B):c.1993A>T (p.Asn665Tyr)
NM_001017995.3(SH3PXD2B):c.2005A>G (p.Lys669Glu)
NM_001017995.3(SH3PXD2B):c.2072G>A (p.Gly691Asp)
NM_001017995.3(SH3PXD2B):c.2079C>G (p.Asp693Glu) rs200804079
NM_001017995.3(SH3PXD2B):c.2117C>G (p.Pro706Arg)
NM_001017995.3(SH3PXD2B):c.2119G>A (p.Gly707Ser)
NM_001017995.3(SH3PXD2B):c.2180G>C (p.Arg727Thr)
NM_001017995.3(SH3PXD2B):c.2182G>A (p.Ala728Thr)
NM_001017995.3(SH3PXD2B):c.2243A>T (p.Gln748Leu)
NM_001017995.3(SH3PXD2B):c.2279G>A (p.Arg760His)
NM_001017995.3(SH3PXD2B):c.2359G>A (p.Glu787Lys)
NM_001017995.3(SH3PXD2B):c.2359G>T (p.Glu787Ter) rs142818364
NM_001017995.3(SH3PXD2B):c.2374C>T (p.Pro792Ser) rs1756764977
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.2404C>T (p.Pro802Ser)
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.2441G>T (p.Gly814Val)
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>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.2636G>A (p.Arg879Gln)
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.2714A>G (p.Asn905Ser)
NM_001017995.3(SH3PXD2B):c.2732C>T (p.Pro911Leu)
NM_001017995.3(SH3PXD2B):c.274G>A (p.Val92Ile) rs1758254485
NM_001017995.3(SH3PXD2B):c.280C>T (p.Arg94Cys)
NM_001017995.3(SH3PXD2B):c.325C>T (p.Pro109Ser)
NM_001017995.3(SH3PXD2B):c.329C>A (p.Pro110His)
NM_001017995.3(SH3PXD2B):c.376C>A (p.Pro126Thr) rs1362048606
NM_001017995.3(SH3PXD2B):c.392C>T (p.Pro131Leu)
NM_001017995.3(SH3PXD2B):c.395C>A (p.Pro132His) rs778527787
NM_001017995.3(SH3PXD2B):c.412G>T (p.Gly138Trp) rs865941777
NM_001017995.3(SH3PXD2B):c.427+14C>T rs79535495
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.452C>T (p.Pro151Leu)
NM_001017995.3(SH3PXD2B):c.45G>A (p.Val15=)
NM_001017995.3(SH3PXD2B):c.506C>T (p.Ser169Leu)
NM_001017995.3(SH3PXD2B):c.562+5G>A
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.667+14C>A rs886060424
NM_001017995.3(SH3PXD2B):c.686T>C (p.Ile229Thr)
NM_001017995.3(SH3PXD2B):c.692C>A (p.Pro231Gln) rs1376425621
NM_001017995.3(SH3PXD2B):c.704G>A (p.Arg235Gln)
NM_001017995.3(SH3PXD2B):c.731G>A (p.Arg244Lys)
NM_001017995.3(SH3PXD2B):c.758A>G (p.Lys253Arg)
NM_001017995.3(SH3PXD2B):c.782T>G (p.Ile261Ser)
NM_001017995.3(SH3PXD2B):c.828GAA[1] (p.Lys277del)
NM_001017995.3(SH3PXD2B):c.830A>G (p.Lys277Arg)
NM_001017995.3(SH3PXD2B):c.849G>T (p.Leu283Phe)
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.899T>C (p.Leu300Ser) rs1757135183
NM_001017995.3(SH3PXD2B):c.901G>T (p.Asp301Tyr)
NM_001017995.3(SH3PXD2B):c.908T>G (p.Val303Gly)
NM_001017995.3(SH3PXD2B):c.913C>T (p.Arg305Trp) rs1156856878
NM_001017995.3(SH3PXD2B):c.971G>A (p.Arg324Gln)
NM_001017995.3(SH3PXD2B):c.980G>A (p.Gly327Asp)
NM_001017995.3(SH3PXD2B):c.983G>A (p.Arg328His)
NM_001017995.3(SH3PXD2B):c.992C>T (p.Pro331Leu)

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