List of variants reported as likely pathogenic for acquired aplastic anemia by Fulgent Genetics, Fulgent Genetics

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 104

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HGVS	dbSNP	gnomAD frequency
NM_001083116.3(PRF1):c.695G>A (p.Arg232His)	rs747380397	0.00013
NM_005373.3(MPL):c.391+5G>C	rs752453717	0.00012
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)	rs751247865	0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)	rs200287925	0.00006
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)	rs139322149	0.00004
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)	rs1564723449	0.00004
NM_002485.5(NBN):c.897-2A>T	rs864622090	0.00003
NM_005373.3(MPL):c.230del (p.Cys77fs)	rs1291157023	0.00003
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)	rs200430442	0.00002
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile)	rs758728749	0.00002
NM_002485.5(NBN):c.37+1G>A	rs574673404	0.00002
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)	rs770402221	0.00002
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)	rs758428763	0.00002
NM_001083116.3(PRF1):c.1471G>A (p.Asp491Asn)	rs1324261340	0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)	rs202217604	0.00001
NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys)	rs902124045	0.00001
NM_002485.5(NBN):c.2184+1G>T	rs756363734	0.00001
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	rs1057516320	0.00001
NM_002485.5(NBN):c.481-2A>T	rs751567476	0.00001
NM_002485.5(NBN):c.7A>T (p.Lys3Ter)	rs779098734	0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)	rs1169744090	0.00001
NM_005373.3(MPL):c.1566-1G>A	rs1570474015	0.00001
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter)	rs755447085	0.00001
NM_005373.3(MPL):c.311T>C (p.Phe104Ser)	rs1196161699	0.00001
NM_005373.3(MPL):c.981-1G>C	rs769297582	0.00001
NM_198253.3(TERT):c.2005C>T (p.Arg669Trp)	rs372140951	0.00001
NM_001083116.3(PRF1):c.1179C>A (p.Cys393Ter)
NM_001083116.3(PRF1):c.133G>C (p.Gly45Arg)
NM_001083116.3(PRF1):c.140G>T (p.Gly47Val)
NM_001083116.3(PRF1):c.147C>A (p.Asp49Glu)	rs761310644
NM_001083116.3(PRF1):c.242del (p.Gln81fs)
NM_001083116.3(PRF1):c.284_285del (p.Trp95fs)
NM_001083116.3(PRF1):c.315_340dup (p.Thr114delinsMetTer)
NM_001083116.3(PRF1):c.387G>A (p.Trp129Ter)
NM_001083116.3(PRF1):c.457C>T (p.Gln153Ter)
NM_001083116.3(PRF1):c.730_731delinsG (p.Leu244fs)
NM_001083116.3(PRF1):c.806_812delinsCC (p.His269fs)
NM_001083116.3(PRF1):c.888C>G (p.Tyr296Ter)
NM_001083116.3(PRF1):c.902C>A (p.Ser301Ter)	rs1259291325
NM_001083116.3(PRF1):c.938A>T (p.Asp313Val)
NM_002485.5(NBN):c.1053del (p.Lys351fs)
NM_002485.5(NBN):c.1073_1111delinsATACATGGTA (p.Val358_Gln371delinsAspThrTrpTer)
NM_002485.5(NBN):c.109_110delinsC (p.Asn37fs)
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)	rs2129744741
NM_002485.5(NBN):c.1125-2A>G	rs1554559373
NM_002485.5(NBN):c.1168G>T (p.Glu390Ter)	rs2129721628
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)	rs1238152597
NM_002485.5(NBN):c.1287T>A (p.Tyr429Ter)
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)	rs1554559094
NM_002485.5(NBN):c.1388_1389delinsT (p.Thr463fs)
NM_002485.5(NBN):c.1396dup (p.Arg466fs)	rs1349928568
NM_002485.5(NBN):c.1397+1_1397+9delinsACA	rs876659666
NM_002485.5(NBN):c.141_142del (p.Leu48fs)	rs750375741
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)	rs764884516
NM_002485.5(NBN):c.1502G>A (p.Trp501Ter)	rs1554558472
NM_002485.5(NBN):c.1515del (p.Glu505fs)	rs759232053
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)	rs766044684
NM_002485.5(NBN):c.1651dup (p.Arg551fs)	rs766044684
NM_002485.5(NBN):c.172-1G>T	rs1391598284
NM_002485.5(NBN):c.1723G>T (p.Glu575Ter)	rs786201745
NM_002485.5(NBN):c.1845+1G>A	rs2129695663
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)	rs1178384498
NM_002485.5(NBN):c.2071-1G>C	rs786201965
NM_002485.5(NBN):c.210_211del (p.Asp70fs)	rs786202494
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)	rs762664474
NM_002485.5(NBN):c.2143_2144insTGAA (p.Lys715fs)
NM_002485.5(NBN):c.2194C>T (p.Gln732Ter)	rs1554554265
NM_002485.5(NBN):c.247dup (p.Met83fs)
NM_002485.5(NBN):c.38-2A>G	rs771475965
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)	rs1812023981
NM_002485.5(NBN):c.4del (p.Trp2fs)	rs1275657359
NM_002485.5(NBN):c.535_537delinsT (p.Glu179fs)	rs1554566678
NM_002485.5(NBN):c.589dup (p.Tyr197fs)	rs1586088924
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)	rs1554564297
NM_002485.5(NBN):c.608del (p.Pro203fs)
NM_002485.5(NBN):c.633_642del (p.Leu212fs)
NM_002485.5(NBN):c.676del (p.Thr226fs)	rs1563561558
NM_002485.5(NBN):c.72C>G (p.Tyr24Ter)
NM_002485.5(NBN):c.73del (p.Val25fs)
NM_002485.5(NBN):c.896+1G>A	rs778306619
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)
NM_005373.3(MPL):c.1035_1042del (p.Thr346fs)
NM_005373.3(MPL):c.1095del (p.Val366fs)
NM_005373.3(MPL):c.1166-1G>C	rs2153918730
NM_005373.3(MPL):c.1166_1169dup
NM_005373.3(MPL):c.1365_1366del (p.Arg456fs)
NM_005373.3(MPL):c.1545G>A (p.Trp515Ter)
NM_005373.3(MPL):c.1629del (p.Arg544fs)
NM_005373.3(MPL):c.1653+1G>C
NM_005373.3(MPL):c.1654-1G>A
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu)	rs121913612
NM_005373.3(MPL):c.256del (p.His86fs)
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)	rs759361904
NM_005373.3(MPL):c.308del (p.Leu103fs)	rs1361003749
NM_005373.3(MPL):c.407C>A (p.Pro136His)	rs764904424
NM_005373.3(MPL):c.407C>G (p.Pro136Arg)
NM_005373.3(MPL):c.690+1G>A
NM_005373.3(MPL):c.733G>T (p.Gly245Ter)
NM_005373.3(MPL):c.775G>T (p.Glu259Ter)
NM_005373.3(MPL):c.821del (p.Leu274fs)
NM_005373.3(MPL):c.972del (p.Arg325fs)	rs770457041
NM_005373.3(MPL):c.981-1G>T
NM_005373.3(MPL):c.993_996delinsA (p.Trp331_Glu332delinsTer)
NM_198253.3(TERT):c.336dup (p.Glu113fs)	rs1060502990

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