ClinVar Miner

List of variants reported as likely pathogenic for lymphoid hemopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_001083116.3(PRF1):c.695G>A (p.Arg232His) rs747380397 0.00013
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_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_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_206937.2(LIG4):c.1345A>C (p.Lys449Gln) rs758694012 0.00001
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter) rs104894418 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_206937.2(LIG4):c.1746_1750del (p.Glu582fs) rs759829934
NM_206937.2(LIG4):c.2585_2586del (p.His862fs)
NM_206937.2(LIG4):c.597_600del (p.Gln200fs) rs752339466
NM_206937.2(LIG4):c.724_725del (p.Leu242fs) rs2138978299
NM_206937.2(LIG4):c.877C>T (p.Arg293Ter)
NM_206937.2(LIG4):c.879_883del (p.Asn294fs) rs751070095

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