ClinVar Miner

List of variants in gene DEPDC5 reported as pathogenic for Inborn genetic diseases

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Total variants: 12
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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.1663C>T (p.Arg555Ter) rs587776973 0.00001
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter) rs768241563 0.00001
NM_001242896.3(DEPDC5):c.1218-1G>A rs2087504321
NM_001242896.3(DEPDC5):c.1310del (p.Asn437fs) rs2088008490
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter) rs886039261
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs) rs1372605067
NM_001242896.3(DEPDC5):c.3155+5G>A
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter) rs886039269
NM_001242896.3(DEPDC5):c.4287C>G (p.Tyr1429Ter) rs1569232705
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs) rs1601925213
NM_001242896.3(DEPDC5):c.903del (p.Ala302fs)

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