ClinVar Miner

List of variants in gene DEPDC5 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001242896.3(DEPDC5):c.1958dup (p.His653fs) rs1475605360 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 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
NM_001242896.3(DEPDC5):c.1324+3_1324+6del
NM_001242896.3(DEPDC5):c.1474C>T (p.Arg492Ter) rs1057519107
NM_001242896.3(DEPDC5):c.1550_1565dup (p.Asp522delinsGluGluProGlyPheTer) rs2088917801
NM_001242896.3(DEPDC5):c.1780C>T (p.Gln594Ter)
NM_001242896.3(DEPDC5):c.1831_1832dup (p.Ser612fs)
NM_001242896.3(DEPDC5):c.1846C>T (p.Arg616Cys)
NM_001242896.3(DEPDC5):c.218_219del (p.Val73fs) rs2148103243
NM_001242896.3(DEPDC5):c.2413del (p.Gln805fs) rs2091205948
NM_001242896.3(DEPDC5):c.2633+2T>A rs2091504320
NM_001242896.3(DEPDC5):c.2634-2A>G rs2149008450
NM_001242896.3(DEPDC5):c.3562_3563dup (p.Thr1189fs) rs1555914806
NM_001242896.3(DEPDC5):c.363+1G>A rs2082845191
NM_001242896.3(DEPDC5):c.388C>T (p.Gln130Ter) rs1569512941
NM_001242896.3(DEPDC5):c.4066del (p.Leu1356fs) rs2093486364
NM_001242896.3(DEPDC5):c.4501C>T (p.Gln1501Ter) rs1603014708
NM_001242896.3(DEPDC5):c.4571del (p.Gln1524fs)
NM_001242896.3(DEPDC5):c.4694del (p.Asp1565fs)
NM_001242896.3(DEPDC5):c.562G>T (p.Gly188Trp)
NM_001242896.3(DEPDC5):c.58+5G>C rs1064794917
NM_001242896.3(DEPDC5):c.625-2A>G rs1400868304
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter) rs772872014
NM_001242896.3(DEPDC5):c.838C>T (p.Gln280Ter)
NM_001242896.3(DEPDC5):c.865C>T (p.Gln289Ter) rs759952667
NM_001242896.3(DEPDC5):c.944_945del (p.Asn315fs) rs1601935630
NM_001242896.3(DEPDC5):c.946+1G>A rs1556608580
NM_001242896.3(DEPDC5):c.999_1000del (p.Val334fs) rs1601969933

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