ClinVar Miner

List of variants in gene DEPDC5 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.2072T>C (p.Leu691Pro) rs201464790 0.00227
NM_001242896.3(DEPDC5):c.2075C>T (p.Ser692Phe) rs199783404 0.00227
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr) rs200653339 0.00200
NM_001242896.3(DEPDC5):c.1321A>G (p.Thr441Ala) rs199749859 0.00162
NM_001242896.3(DEPDC5):c.3265-3C>T rs371377906 0.00108
NM_001242896.3(DEPDC5):c.1330G>A (p.Gly444Arg) rs201394709 0.00071
NM_001242896.3(DEPDC5):c.2354+28C>T rs192889355 0.00071
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=) rs142197878 0.00063
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_001242896.3(DEPDC5):c.2354+48G>A rs199622220 0.00045
NM_001242896.3(DEPDC5):c.3315C>T (p.Ser1105=) rs371969641 0.00037
NM_001242896.3(DEPDC5):c.1290C>T (p.Pro430=) rs201202102 0.00027
NM_001242896.3(DEPDC5):c.363+6_363+7del rs748242785 0.00027
NM_001242896.3(DEPDC5):c.3021G>T (p.Arg1007=) rs201690337 0.00024
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser) rs201776005 0.00023
NM_001242896.3(DEPDC5):c.2672G>C (p.Ser891Thr) rs185576553 0.00021
NM_001242896.3(DEPDC5):c.1353C>T (p.Asn451=) rs377336412 0.00018
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro) rs142540948 0.00017
NM_001242896.3(DEPDC5):c.2066A>C (p.Glu689Ala) rs370940232 0.00011
NM_001242896.3(DEPDC5):c.2784C>T (p.Ala928=) rs201146392 0.00011
NM_001242896.3(DEPDC5):c.2973G>A (p.Glu991=) rs370906184 0.00008
NM_001242896.3(DEPDC5):c.609A>G (p.Leu203=) rs200639727 0.00007
NM_001242896.3(DEPDC5):c.3622G>A (p.Ala1208Thr) rs748662185 0.00006
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe) rs200797928 0.00006
NM_001242896.3(DEPDC5):c.1082-3T>A rs780547994 0.00005
NM_001242896.3(DEPDC5):c.1153C>T (p.Arg385Trp) rs200020310 0.00005
NM_001242896.3(DEPDC5):c.1509C>T (p.Ser503=) rs376217381 0.00005
NM_001242896.3(DEPDC5):c.1226C>G (p.Thr409Arg) rs773704927 0.00004
NM_001242896.3(DEPDC5):c.2592G>A (p.Thr864=) rs763764167 0.00004
NM_001242896.3(DEPDC5):c.3624G>A (p.Ala1208=) rs367828073 0.00004
NM_001242896.3(DEPDC5):c.501G>A (p.Thr167=) rs766360619 0.00004
NM_001242896.3(DEPDC5):c.2004A>G (p.Gly668=) rs374037144 0.00003
NM_001242896.3(DEPDC5):c.3030C>T (p.Thr1010=) rs548885626 0.00003
NM_001242896.3(DEPDC5):c.3225C>T (p.Ser1075=) rs757534228 0.00003
NM_001242896.3(DEPDC5):c.3366C>T (p.Asp1122=) rs375702574 0.00003
NM_001242896.3(DEPDC5):c.4437G>A (p.Arg1479=) rs1057522689 0.00003
NM_001242896.3(DEPDC5):c.2286C>T (p.Asp762=) rs200465447 0.00002
NM_001242896.3(DEPDC5):c.504G>A (p.Ser168=) rs577652236 0.00002
NM_001242896.3(DEPDC5):c.1385A>G (p.Tyr462Cys) rs747546981 0.00001
NM_001242896.3(DEPDC5):c.1604T>C (p.Ile535Thr) rs1171016858 0.00001
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.2019C>G (p.Ser673=) rs372975881 0.00001
NM_001242896.3(DEPDC5):c.2513G>A (p.Arg838Gln) rs1486633691 0.00001
NM_001242896.3(DEPDC5):c.2633+7A>G rs1169099672 0.00001
NM_001242896.3(DEPDC5):c.274C>T (p.Pro92Ser) rs774294197 0.00001
NM_001242896.3(DEPDC5):c.3097G>T (p.Val1033Leu) rs376313159 0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn) rs865860087 0.00001
NM_001242896.3(DEPDC5):c.3735C>T (p.Gly1245=) rs758804451 0.00001
NM_001242896.3(DEPDC5):c.4019C>T (p.Ala1340Val) rs369270649 0.00001
NM_001242896.3(DEPDC5):c.4097G>A (p.Arg1366Gln) rs1064795095 0.00001
NM_001242896.3(DEPDC5):c.4359C>T (p.Ser1453=) rs377333936 0.00001
NM_001242896.3(DEPDC5):c.4571A>G (p.Gln1524Arg) rs377585542 0.00001
GRCh37/hg19 22q12.2(chr22:32150908-32156688)x1
GRCh37/hg19 22q12.2(chr22:32164800-32164849)x1
GRCh37/hg19 22q12.2(chr22:32164800-32164849)x4
GRCh37/hg19 22q12.2(chr22:32174085-32180861)x1
NM_001242896.3(DEPDC5):c.1019T>C (p.Val340Ala)
NM_001242896.3(DEPDC5):c.1122A>C (p.Leu374Phe)
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr) rs777844378
NM_001242896.3(DEPDC5):c.1324+3_1324+6del
NM_001242896.3(DEPDC5):c.137A>T (p.Asp46Val)
NM_001242896.3(DEPDC5):c.138T>C (p.Asp46=)
NM_001242896.3(DEPDC5):c.1403G>A (p.Arg468Lys) rs2088169081
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.1526G>A (p.Arg509His) rs372489331
NM_001242896.3(DEPDC5):c.1550_1565dup (p.Asp522delinsGluGluProGlyPheTer) rs2088917801
NM_001242896.3(DEPDC5):c.1567G>A (p.Asp523Asn)
NM_001242896.3(DEPDC5):c.1628A>G (p.Tyr543Cys)
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter) rs886039263
NM_001242896.3(DEPDC5):c.1967C>T (p.Ala656Val) rs2089705243
NM_001242896.3(DEPDC5):c.196A>T (p.Thr66Ser) rs1556523682
NM_001242896.3(DEPDC5):c.2055C>A (p.Phe685Leu) rs61731667
NM_001242896.3(DEPDC5):c.2253G>A (p.Ala751=) rs777616535
NM_001242896.3(DEPDC5):c.2300A>C (p.Gln767Pro) rs1057519238
NM_001242896.3(DEPDC5):c.232del (p.Arg78fs) rs2082695884
NM_001242896.3(DEPDC5):c.2354+138A>G
NM_001242896.3(DEPDC5):c.2413del (p.Gln805fs) rs2091205948
NM_001242896.3(DEPDC5):c.2416C>T (p.Arg806Cys) rs953743301
NM_001242896.3(DEPDC5):c.2500C>G (p.Pro834Ala) rs1569067813
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001242896.3(DEPDC5):c.2633+2T>A rs2091504320
NM_001242896.3(DEPDC5):c.2831C>T (p.Thr944Ile) rs1228740465
NM_001242896.3(DEPDC5):c.2848C>T (p.Pro950Ser)
NM_001242896.3(DEPDC5):c.2850A>G (p.Pro950=) rs1422399658
NM_001242896.3(DEPDC5):c.3177A>G (p.Ala1059=) rs776608344
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter) rs587777458
NM_001242896.3(DEPDC5):c.3563+4A>G
NM_001242896.3(DEPDC5):c.3600C>A (p.Leu1200=)
NM_001242896.3(DEPDC5):c.3715C>T (p.Leu1239Phe) rs2149267051
NM_001242896.3(DEPDC5):c.3805G>A (p.Val1269Met)
NM_001242896.3(DEPDC5):c.3973del (p.Ser1325fs) rs2093122605
NM_001242896.3(DEPDC5):c.4042G>A (p.Val1348Ile) rs1380088913
NM_001242896.3(DEPDC5):c.4058C>T (p.Thr1353Ile) rs1163140081
NM_001242896.3(DEPDC5):c.413+7A>G rs1057519230
NM_001242896.3(DEPDC5):c.414-4T>C rs2148328295
NM_001242896.3(DEPDC5):c.4189G>C (p.Val1397Leu)
NM_001242896.3(DEPDC5):c.4197dup (p.Glu1400fs) rs2093489538
NM_001242896.3(DEPDC5):c.4203+1638A>G
NM_001242896.3(DEPDC5):c.4204-6C>T rs746382504
NM_001242896.3(DEPDC5):c.4283G>A (p.Ser1428Asn) rs1423776421
NM_001242896.3(DEPDC5):c.4376G>A (p.Ser1459Asn) rs1245607244
NM_001242896.3(DEPDC5):c.4388A>G (p.Glu1463Gly) rs2149419608
NM_001242896.3(DEPDC5):c.4519+1G>A rs1555942720
NM_001242896.3(DEPDC5):c.461G>A (p.Gly154Asp)
NM_001242896.3(DEPDC5):c.4709delinsGGTTT (p.Asp1570fs) rs2149449730
NM_001242896.3(DEPDC5):c.470G>C (p.Ser157Thr)
NM_001242896.3(DEPDC5):c.608T>C (p.Leu203Pro)
NM_001242896.3(DEPDC5):c.625-2A>G rs1400868304
NM_001242896.3(DEPDC5):c.675del (p.Tyr226fs) rs2085727488
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter) rs587776976
NM_001242896.3(DEPDC5):c.716G>A (p.Arg239Gln) rs371511498
NM_001242896.3(DEPDC5):c.946+5G>T rs2086528141

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