List of variants in gene DEPDC5 reported as uncertain significance by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 99

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HGVS	dbSNP	gnomAD frequency
NM_001242896.3(DEPDC5):c.262A>G (p.Asn88Asp)	rs144712084	0.00103
NM_001242896.3(DEPDC5):c.748T>G (p.Phe250Val)	rs201429774	0.00029
NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser)	rs201776005	0.00023
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met)	rs556147064	0.00019
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)	rs564667614	0.00014
NM_001242896.3(DEPDC5):c.4733A>G (p.Asp1578Gly)	rs201347461	0.00009
NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys)	rs750467533	0.00008
NM_001242896.3(DEPDC5):c.1291G>T (p.Ala431Ser)	rs777844378	0.00007
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)	rs200797928	0.00006
NM_001242896.3(DEPDC5):c.1153C>T (p.Arg385Trp)	rs200020310	0.00005
NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr)	rs768264302	0.00004
NM_001242896.3(DEPDC5):c.2026C>G (p.Pro676Ala)	rs199603004	0.00004
NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr)	rs373078069	0.00004
NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val)	rs370318709	0.00004
NM_001242896.3(DEPDC5):c.2486C>T (p.Pro829Leu)	rs370487077	0.00004
NM_001242896.3(DEPDC5):c.3206A>C (p.Gln1069Pro)	rs761678944	0.00004
NM_001242896.3(DEPDC5):c.3678G>A (p.Met1226Ile)	rs756692170	0.00004
NM_001242896.3(DEPDC5):c.4175C>T (p.Ala1392Val)	rs1420107846	0.00004
NM_001242896.3(DEPDC5):c.2704G>A (p.Val902Ile)	rs374944205	0.00003
NM_001242896.3(DEPDC5):c.3871C>T (p.Arg1291Cys)	rs202227830	0.00003
NM_001242896.3(DEPDC5):c.2006+3G>A	rs752184633	0.00002
NM_001242896.3(DEPDC5):c.2105-4A>G	rs888653334	0.00002
NM_001242896.3(DEPDC5):c.2519T>C (p.Leu840Pro)	rs746197380	0.00002
NM_001242896.3(DEPDC5):c.3247A>C (p.Met1083Leu)	rs768817912	0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)	rs749809456	0.00002
NM_001242896.3(DEPDC5):c.95A>G (p.His32Arg)	rs760541660	0.00002
NM_001242896.3(DEPDC5):c.1273C>G (p.Leu425Val)	rs2087513191	0.00001
NM_001242896.3(DEPDC5):c.1664G>A (p.Arg555Gln)	rs199688798	0.00001
NM_001242896.3(DEPDC5):c.1704C>G (p.Asp568Glu)	rs1236432902	0.00001
NM_001242896.3(DEPDC5):c.1794T>G (p.Ile598Met)	rs918653735	0.00001
NM_001242896.3(DEPDC5):c.20A>G (p.Tyr7Cys)	rs748813142	0.00001
NM_001242896.3(DEPDC5):c.2528G>A (p.Arg843Gln)	rs756611357	0.00001
NM_001242896.3(DEPDC5):c.257A>G (p.Tyr86Cys)	rs377039864	0.00001
NM_001242896.3(DEPDC5):c.2731G>A (p.Glu911Lys)	rs1214608865	0.00001
NM_001242896.3(DEPDC5):c.2834G>A (p.Arg945His)	rs772897391	0.00001
NM_001242896.3(DEPDC5):c.298G>A (p.Val100Met)	rs797045522	0.00001
NM_001242896.3(DEPDC5):c.3017T>C (p.Met1006Thr)	rs935896142	0.00001
NM_001242896.3(DEPDC5):c.3158G>T (p.Cys1053Phe)	rs771407307	0.00001
NM_001242896.3(DEPDC5):c.3272C>T (p.Ala1091Val)	rs772812141	0.00001
NM_001242896.3(DEPDC5):c.3515C>A (p.Thr1172Asn)	rs865860087	0.00001
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val)	rs772280549	0.00001
NM_001242896.3(DEPDC5):c.3872G>A (p.Arg1291His)	rs759266712	0.00001
NM_001242896.3(DEPDC5):c.3911T>A (p.Val1304Glu)	rs368558048	0.00001
NM_001242896.3(DEPDC5):c.4096C>T (p.Arg1366Trp)	rs1014849515	0.00001
NM_001242896.3(DEPDC5):c.4124A>G (p.His1375Arg)	rs1260083367	0.00001
NM_001242896.3(DEPDC5):c.4299C>A (p.Asp1433Glu)	rs753759814	0.00001
NM_001242896.3(DEPDC5):c.4354G>A (p.Gly1452Ser)	rs1452980660	0.00001
NM_001242896.3(DEPDC5):c.1021G>T (p.Gly341Cys)
NM_001242896.3(DEPDC5):c.1118C>T (p.Pro373Leu)
NM_001242896.3(DEPDC5):c.1148A>G (p.His383Arg)
NM_001242896.3(DEPDC5):c.1169A>T (p.Asp390Val)
NM_001242896.3(DEPDC5):c.1234A>T (p.Ser412Cys)
NM_001242896.3(DEPDC5):c.1235G>A (p.Ser412Asn)
NM_001242896.3(DEPDC5):c.1246T>C (p.Cys416Arg)	rs1568962734
NM_001242896.3(DEPDC5):c.1269A>G (p.Ile423Met)	rs778795541
NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro)	rs2148665735
NM_001242896.3(DEPDC5):c.1316G>A (p.Arg439His)
NM_001242896.3(DEPDC5):c.134A>G (p.Asn45Ser)
NM_001242896.3(DEPDC5):c.1477A>C (p.Lys493Gln)
NM_001242896.3(DEPDC5):c.1546G>T (p.Val516Leu)
NM_001242896.3(DEPDC5):c.202A>G (p.Ser68Gly)
NM_001242896.3(DEPDC5):c.2243C>G (p.Thr748Ser)	rs1569060315
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu)	rs542384516
NM_001242896.3(DEPDC5):c.2464C>T (p.Pro822Ser)	rs781677679
NM_001242896.3(DEPDC5):c.2599G>A (p.Asp867Asn)
NM_001242896.3(DEPDC5):c.2626C>T (p.Leu876Phe)
NM_001242896.3(DEPDC5):c.2732A>C (p.Glu911Ala)
NM_001242896.3(DEPDC5):c.2764G>A (p.Asp922Asn)
NM_001242896.3(DEPDC5):c.3156-3C>T
NM_001242896.3(DEPDC5):c.3245A>G (p.Tyr1082Cys)
NM_001242896.3(DEPDC5):c.3379G>A (p.Gly1127Ser)
NM_001242896.3(DEPDC5):c.3412A>C (p.Asn1138His)
NM_001242896.3(DEPDC5):c.3715C>T (p.Leu1239Phe)	rs2149267051
NM_001242896.3(DEPDC5):c.3724C>T (p.His1242Tyr)
NM_001242896.3(DEPDC5):c.3833G>T (p.Trp1278Leu)	rs1569185783
NM_001242896.3(DEPDC5):c.3859G>A (p.Ala1287Thr)
NM_001242896.3(DEPDC5):c.3964T>A (p.Ser1322Thr)
NM_001242896.3(DEPDC5):c.3965C>G (p.Ser1322Cys)
NM_001242896.3(DEPDC5):c.4013G>A (p.Ser1338Asn)
NM_001242896.3(DEPDC5):c.4076A>T (p.Asp1359Val)
NM_001242896.3(DEPDC5):c.4093G>A (p.Asp1365Asn)	rs1191285429
NM_001242896.3(DEPDC5):c.4126G>A (p.Gly1376Ser)	rs1555929990
NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu)	rs1555930038
NM_001242896.3(DEPDC5):c.4163T>C (p.Leu1388Pro)	rs1446980540
NM_001242896.3(DEPDC5):c.4203+5G>A	rs1569224557
NM_001242896.3(DEPDC5):c.4216C>T (p.His1406Tyr)
NM_001242896.3(DEPDC5):c.4219C>T (p.Arg1407Trp)
NM_001242896.3(DEPDC5):c.4297G>A (p.Asp1433Asn)	rs766385762
NM_001242896.3(DEPDC5):c.4367T>A (p.Leu1456Gln)
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter)	rs797044546
NM_001242896.3(DEPDC5):c.4603A>G (p.Asn1535Asp)
NM_001242896.3(DEPDC5):c.4645G>C (p.Ala1549Pro)
NM_001242896.3(DEPDC5):c.4739G>A (p.Cys1580Tyr)	rs776213050
NM_001242896.3(DEPDC5):c.4748G>A (p.Arg1583His)	rs2093761069
NM_001242896.3(DEPDC5):c.484G>C (p.Val162Leu)
NM_001242896.3(DEPDC5):c.547G>A (p.Asp183Asn)	rs368985382
NM_001242896.3(DEPDC5):c.829C>T (p.Leu277Phe)	rs778656662
NM_001242896.3(DEPDC5):c.864A>C (p.Glu288Asp)
NM_001242896.3(DEPDC5):c.971G>A (p.Arg324His)	rs2087011135

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