ClinVar Miner

List of variants in gene SH3PXD2B reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001017995.3(SH3PXD2B):c.854C>T (p.Pro285Leu) rs141428218 0.00059
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.1141A>G (p.Thr381Ala) rs150648145 0.00038
NM_001017995.3(SH3PXD2B):c.2569G>T (p.Ala857Ser) rs150789109 0.00027
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.2578G>A (p.Asp860Asn) rs765472301 0.00014
NM_001017995.3(SH3PXD2B):c.1013-3T>C rs752701208 0.00012
NM_001017995.3(SH3PXD2B):c.262C>T (p.Arg88Trp) rs191035319 0.00011
NM_001017995.3(SH3PXD2B):c.1403G>A (p.Arg468Gln) rs144424788 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.2381C>G (p.Pro794Arg) rs753753762 0.00006
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.2122C>T (p.Arg708Cys) rs545491323 0.00004
NM_001017995.3(SH3PXD2B):c.2320C>A (p.Pro774Thr) rs753041286 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.1718G>A (p.Arg573Gln) rs147231839 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.901G>A (p.Asp301Asn) rs745483057 0.00002
NM_001017995.3(SH3PXD2B):c.1132G>A (p.Glu378Lys) rs1193667826 0.00001
NM_001017995.3(SH3PXD2B):c.1342C>T (p.Arg448Trp) rs552171716 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.2635C>T (p.Arg879Trp) rs767729554 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.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.1082C>T (p.Pro361Leu)
NM_001017995.3(SH3PXD2B):c.1093_1101dup (p.Ile365_Pro367dup) rs2113275048
NM_001017995.3(SH3PXD2B):c.1156G>A (p.Gly386Ser)
NM_001017995.3(SH3PXD2B):c.1253C>A (p.Pro418Gln)
NM_001017995.3(SH3PXD2B):c.1292C>T (p.Ala431Val)
NM_001017995.3(SH3PXD2B):c.1376C>T (p.Thr459Met)
NM_001017995.3(SH3PXD2B):c.1381_1395dup (p.Gly465_Pro466insSerGluAlaThrGly)
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.1600G>A (p.Gly534Arg) rs1756799495
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.1730G>T (p.Arg577Met) rs761259375
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.2117C>G (p.Pro706Arg)
NM_001017995.3(SH3PXD2B):c.2180G>C (p.Arg727Thr)
NM_001017995.3(SH3PXD2B):c.2243A>T (p.Gln748Leu)
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.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.2545G>A (p.Gly849Ser)
NM_001017995.3(SH3PXD2B):c.2570C>T (p.Ala857Val)
NM_001017995.3(SH3PXD2B):c.2596G>C (p.Asp866His) rs2113250267
NM_001017995.3(SH3PXD2B):c.260T>C (p.Ile87Thr)
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.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.395C>A (p.Pro132His) rs778527787
NM_001017995.3(SH3PXD2B):c.412G>T (p.Gly138Trp) rs865941777
NM_001017995.3(SH3PXD2B):c.428G>T (p.Gly143Val)
NM_001017995.3(SH3PXD2B):c.433G>A (p.Asp145Asn)
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.692C>A (p.Pro231Gln) rs1376425621
NM_001017995.3(SH3PXD2B):c.731G>A (p.Arg244Lys)
NM_001017995.3(SH3PXD2B):c.782T>G (p.Ile261Ser)
NM_001017995.3(SH3PXD2B):c.828GAA[1] (p.Lys277del)
NM_001017995.3(SH3PXD2B):c.884C>T (p.Pro295Leu) rs77955907
NM_001017995.3(SH3PXD2B):c.971G>A (p.Arg324Gln)

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.