List of variants in gene DNAAF5 reported as uncertain significance by Invitae

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: 149

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HGVS	dbSNP	gnomAD frequency
NM_017802.4(DNAAF5):c.718G>A (p.Gly240Arg)	rs142141660	0.00060
NM_017802.4(DNAAF5):c.1796G>A (p.Gly599Glu)	rs149924115	0.00044
NM_017802.4(DNAAF5):c.1208G>A (p.Arg403Gln)	rs149778130	0.00039
NM_017802.4(DNAAF5):c.1063A>G (p.Arg355Gly)	rs201998366	0.00038
NM_017802.4(DNAAF5):c.969C>A (p.Asp323Glu)	rs201264312	0.00033
NM_017802.4(DNAAF5):c.2006C>T (p.Thr669Ile)	rs141955563	0.00022
NM_017802.4(DNAAF5):c.2510C>T (p.Ser837Leu)	rs115620965	0.00021
NM_017802.4(DNAAF5):c.697G>A (p.Ala233Thr)	rs149139347	0.00014
NM_017802.4(DNAAF5):c.884A>G (p.Asn295Ser)	rs377147369	0.00014
NM_017802.4(DNAAF5):c.1813G>A (p.Val605Ile)	rs572892623	0.00011
NM_017802.4(DNAAF5):c.1031G>A (p.Arg344His)	rs200002909	0.00009
NM_017802.4(DNAAF5):c.2452G>A (p.Gly818Arg)	rs376897902	0.00008
NM_017802.4(DNAAF5):c.1450A>G (p.Ile484Val)	rs139727224	0.00007
NM_017802.4(DNAAF5):c.1588G>A (p.Ala530Thr)	rs200272840	0.00007
NM_017802.4(DNAAF5):c.1996G>A (p.Ala666Thr)	rs750935190	0.00007
NM_017802.4(DNAAF5):c.2425A>G (p.Ile809Val)	rs563633198	0.00007
NM_017802.4(DNAAF5):c.642G>T (p.Gln214His)	rs374875482	0.00007
NM_017802.4(DNAAF5):c.780+6T>A	rs903588155	0.00007
NM_017802.4(DNAAF5):c.1246G>A (p.Val416Met)	rs775542739	0.00006
NM_017802.4(DNAAF5):c.1247T>C (p.Val416Ala)	rs762606868	0.00006
NM_017802.4(DNAAF5):c.1598C>T (p.Thr533Ile)	rs775678178	0.00006
NM_017802.4(DNAAF5):c.1976C>T (p.Ala659Val)	rs137924231	0.00006
NM_017802.4(DNAAF5):c.2003G>C (p.Arg668Thr)	rs555500022	0.00006
NM_017802.4(DNAAF5):c.2251C>T (p.Arg751Cys)	rs779271163	0.00006
NM_017802.4(DNAAF5):c.623T>C (p.Leu208Pro)	rs377581183	0.00006
NM_017802.4(DNAAF5):c.1375G>A (p.Ala459Thr)	rs201942359	0.00005
NM_017802.4(DNAAF5):c.1487G>A (p.Arg496His)	rs149610399	0.00005
NM_017802.4(DNAAF5):c.2551G>A (p.Val851Met)	rs201895277	0.00005
NM_017802.4(DNAAF5):c.1715C>T (p.Ala572Val)	rs147690117	0.00004
NM_017802.4(DNAAF5):c.1816G>A (p.Val606Met)	rs200034358	0.00004
NM_017802.4(DNAAF5):c.2375G>A (p.Arg792Gln)	rs772102523	0.00004
NM_017802.4(DNAAF5):c.1027C>T (p.Arg343Cys)	rs773921234	0.00003
NM_017802.4(DNAAF5):c.1207C>T (p.Arg403Trp)	rs372413434	0.00003
NM_017802.4(DNAAF5):c.1582G>T (p.Ala528Ser)	rs747552520	0.00003
NM_017802.4(DNAAF5):c.1714G>A (p.Ala572Thr)	rs534027051	0.00003
NM_017802.4(DNAAF5):c.1856C>T (p.Pro619Leu)	rs755871359	0.00003
NM_017802.4(DNAAF5):c.2075C>T (p.Ala692Val)	rs759671132	0.00003
NM_017802.4(DNAAF5):c.2252G>A (p.Arg751His)	rs145339697	0.00003
NM_017802.4(DNAAF5):c.2451C>A (p.Ser817Arg)	rs142621969	0.00003
NM_017802.4(DNAAF5):c.802G>A (p.Val268Met)	rs370267615	0.00003
NM_017802.4(DNAAF5):c.1177C>T (p.His393Tyr)	rs768907625	0.00002
NM_017802.4(DNAAF5):c.1195G>A (p.Glu399Lys)	rs752282523	0.00002
NM_017802.4(DNAAF5):c.1231G>A (p.Asp411Asn)	rs748404959	0.00002
NM_017802.4(DNAAF5):c.1739A>G (p.His580Arg)	rs762336859	0.00002
NM_017802.4(DNAAF5):c.2263G>A (p.Val755Met)	rs777468194	0.00002
NM_017802.4(DNAAF5):c.2507G>A (p.Arg836His)	rs760802184	0.00002
NM_017802.4(DNAAF5):c.1276C>G (p.Leu426Val)	rs747227150	0.00001
NM_017802.4(DNAAF5):c.1328C>T (p.Thr443Met)	rs777008597	0.00001
NM_017802.4(DNAAF5):c.1342C>T (p.Pro448Ser)	rs751643186	0.00001
NM_017802.4(DNAAF5):c.1381C>T (p.Arg461Trp)	rs373336873	0.00001
NM_017802.4(DNAAF5):c.1435C>G (p.Leu479Val)	rs769427761	0.00001
NM_017802.4(DNAAF5):c.1471-3C>T	rs543219185	0.00001
NM_017802.4(DNAAF5):c.1586T>A (p.Leu529His)	rs368098310	0.00001
NM_017802.4(DNAAF5):c.1610A>G (p.Asp537Gly)	rs926185028	0.00001
NM_017802.4(DNAAF5):c.1728C>G (p.Asp576Glu)	rs1437350828	0.00001
NM_017802.4(DNAAF5):c.1735G>A (p.Ala579Thr)	rs769804298	0.00001
NM_017802.4(DNAAF5):c.1771G>A (p.Val591Ile)	rs754002298	0.00001
NM_017802.4(DNAAF5):c.1802C>G (p.Ala601Gly)	rs745537484	0.00001
NM_017802.4(DNAAF5):c.1865G>A (p.Arg622His)	rs779833002	0.00001
NM_017802.4(DNAAF5):c.1997C>T (p.Ala666Val)	rs761189541	0.00001
NM_017802.4(DNAAF5):c.2048C>T (p.Ala683Val)	rs1159798626	0.00001
NM_017802.4(DNAAF5):c.2177A>C (p.Asn726Thr)	rs1332012675	0.00001
NM_017802.4(DNAAF5):c.2506C>T (p.Arg836Cys)	rs755610202	0.00001
NM_017802.4(DNAAF5):c.2546A>C (p.Gln849Pro)	rs768265611	0.00001
NM_017802.4(DNAAF5):c.607A>G (p.Met203Val)	rs1194482161	0.00001
NM_017802.4(DNAAF5):c.614C>T (p.Ser205Leu)	rs373565354	0.00001
NM_017802.4(DNAAF5):c.650C>A (p.Ser217Tyr)	rs1781502389	0.00001
NM_017802.4(DNAAF5):c.758G>A (p.Arg253Gln)	rs545123585	0.00001
NM_017802.4(DNAAF5):c.811G>A (p.Gly271Ser)	rs764170608	0.00001
NM_017802.4(DNAAF5):c.836G>A (p.Arg279His)	rs978606639	0.00001
NM_017802.4(DNAAF5):c.892G>T (p.Val298Leu)	rs181807581	0.00001
NM_017802.4(DNAAF5):c.1016C>G (p.Pro339Arg)
NM_017802.4(DNAAF5):c.1018C>G (p.Pro340Ala)
NM_017802.4(DNAAF5):c.1030C>T (p.Arg344Cys)	rs1583495983
NM_017802.4(DNAAF5):c.1057G>A (p.Val353Ile)
NM_017802.4(DNAAF5):c.1069C>T (p.Leu357Phe)
NM_017802.4(DNAAF5):c.1108G>A (p.Asp370Asn)	rs200573334
NM_017802.4(DNAAF5):c.1108G>T (p.Asp370Tyr)	rs200573334
NM_017802.4(DNAAF5):c.1127G>A (p.Arg376Gln)	rs760488601
NM_017802.4(DNAAF5):c.1166A>G (p.His389Arg)
NM_017802.4(DNAAF5):c.1171G>A (p.Glu391Lys)
NM_017802.4(DNAAF5):c.1180G>A (p.Ala394Thr)
NM_017802.4(DNAAF5):c.1184C>T (p.Thr395Met)
NM_017802.4(DNAAF5):c.1221G>C (p.Gln407His)	rs1782430981
NM_017802.4(DNAAF5):c.1234G>A (p.Glu412Lys)
NM_017802.4(DNAAF5):c.1255A>G (p.Ser419Gly)	rs1327498994
NM_017802.4(DNAAF5):c.1258-3C>T	rs1562388213
NM_017802.4(DNAAF5):c.1279G>A (p.Val427Ile)	rs372983996
NM_017802.4(DNAAF5):c.1279G>T (p.Val427Phe)	rs372983996
NM_017802.4(DNAAF5):c.1340C>T (p.Thr447Met)	rs369586981
NM_017802.4(DNAAF5):c.1406A>G (p.Gln469Arg)
NM_017802.4(DNAAF5):c.1471G>A (p.Asp491Asn)	rs1431048395
NM_017802.4(DNAAF5):c.1519G>A (p.Val507Met)
NM_017802.4(DNAAF5):c.1537G>A (p.Gly513Ser)
NM_017802.4(DNAAF5):c.1544C>T (p.Ala515Val)	rs878855034
NM_017802.4(DNAAF5):c.1547G>A (p.Ser516Asn)
NM_017802.4(DNAAF5):c.1564G>A (p.Val522Met)
NM_017802.4(DNAAF5):c.1576A>C (p.Ile526Leu)	rs778680655
NM_017802.4(DNAAF5):c.1600G>A (p.Gly534Ser)
NM_017802.4(DNAAF5):c.1616C>T (p.Ala539Val)
NM_017802.4(DNAAF5):c.1645G>A (p.Val549Met)	rs746007264
NM_017802.4(DNAAF5):c.1679G>A (p.Arg560His)	rs760358814
NM_017802.4(DNAAF5):c.1689T>G (p.Ile563Met)
NM_017802.4(DNAAF5):c.1705C>T (p.Arg569Trp)
NM_017802.4(DNAAF5):c.1708G>C (p.Val570Leu)
NM_017802.4(DNAAF5):c.1823C>T (p.Thr608Met)
NM_017802.4(DNAAF5):c.1856C>G (p.Pro619Arg)	rs755871359
NM_017802.4(DNAAF5):c.1931G>C (p.Gly644Ala)
NM_017802.4(DNAAF5):c.1978C>A (p.Pro660Thr)	rs1778670673
NM_017802.4(DNAAF5):c.1995T>A (p.His665Gln)
NM_017802.4(DNAAF5):c.2003G>A (p.Arg668Lys)
NM_017802.4(DNAAF5):c.2015C>G (p.Ala672Gly)	rs2128084811
NM_017802.4(DNAAF5):c.2069T>C (p.Leu690Pro)	rs761120794
NM_017802.4(DNAAF5):c.2082+5G>A	rs1027651909
NM_017802.4(DNAAF5):c.2129_2140del (p.Leu710_Ser714delinsPro)
NM_017802.4(DNAAF5):c.2167C>T (p.Arg723Cys)
NM_017802.4(DNAAF5):c.2168G>A (p.Arg723His)
NM_017802.4(DNAAF5):c.2168G>C (p.Arg723Pro)
NM_017802.4(DNAAF5):c.2176A>G (p.Asn726Asp)
NM_017802.4(DNAAF5):c.2197G>A (p.Gly733Ser)	rs2128085181
NM_017802.4(DNAAF5):c.2230A>G (p.Ile744Val)
NM_017802.4(DNAAF5):c.2324A>G (p.Lys775Arg)
NM_017802.4(DNAAF5):c.2371T>C (p.Tyr791His)	rs2128086438
NM_017802.4(DNAAF5):c.2377G>C (p.Glu793Gln)	rs2128086442
NM_017802.4(DNAAF5):c.2401C>G (p.Pro801Ala)
NM_017802.4(DNAAF5):c.2423C>T (p.Ala808Val)	rs1778888401
NM_017802.4(DNAAF5):c.2479G>C (p.Glu827Gln)	rs1304156174
NM_017802.4(DNAAF5):c.2491G>A (p.Val831Ile)
NM_017802.4(DNAAF5):c.628G>A (p.Gly210Arg)
NM_017802.4(DNAAF5):c.641A>G (p.Gln214Arg)	rs1060502834
NM_017802.4(DNAAF5):c.643A>T (p.Thr215Ser)
NM_017802.4(DNAAF5):c.671G>A (p.Arg224His)	rs1395390854
NM_017802.4(DNAAF5):c.676G>C (p.Ala226Pro)	rs780016631
NM_017802.4(DNAAF5):c.697G>T (p.Ala233Ser)	rs149139347
NM_017802.4(DNAAF5):c.743C>A (p.Ser248Tyr)
NM_017802.4(DNAAF5):c.745C>T (p.His249Tyr)	rs1562372184
NM_017802.4(DNAAF5):c.772G>A (p.Val258Ile)
NM_017802.4(DNAAF5):c.788G>T (p.Arg263Leu)	rs201059622
NM_017802.4(DNAAF5):c.800C>T (p.Ser267Phe)	rs1583482187
NM_017802.4(DNAAF5):c.805G>A (p.Val269Met)
NM_017802.4(DNAAF5):c.827T>G (p.Leu276Arg)
NM_017802.4(DNAAF5):c.830G>A (p.Arg277His)	rs760388668
NM_017802.4(DNAAF5):c.832G>A (p.Asp278Asn)	rs1583482252
NM_017802.4(DNAAF5):c.879C>A (p.Ser293Arg)
NM_017802.4(DNAAF5):c.889G>A (p.Glu297Lys)	rs753466171
NM_017802.4(DNAAF5):c.905+4C>T	rs377210150
NM_017802.4(DNAAF5):c.905+5G>A	rs781625543
NM_017802.4(DNAAF5):c.934G>A (p.Val312Ile)
NM_017802.4(DNAAF5):c.938G>T (p.Gly313Val)

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