List of variants reported as not provided for hematologic disorder by GenomeConnect - Invitae Patient Insights Network

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)	rs34557412	0.00403
NM_080911.3(UNG):c.262C>T (p.Arg88Cys)	rs151095402	0.00090
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile)	rs202244838	0.00067
NM_000551.4(VHL):c.340+578C>T	rs139622356	0.00064
NM_001082486.2(ACD):c.22G>A (p.Val8Ile)	rs149365469	0.00053
NM_003664.5(AP3B1):c.3131+5G>T	rs191616060	0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)	rs181625846	0.00053
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	rs45589637	0.00041
NM_004364.5(CEBPA):c.724G>A (p.Gly242Ser)	rs530569305	0.00031
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)	rs138248569	0.00026
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)	rs199877522	0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	rs80359550	0.00019
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala)	rs151337641	0.00019
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)	rs138618354	0.00015
NM_004629.2(FANCG):c.1367A>T (p.His456Leu)	rs148808709	0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_203447.4(DOCK8):c.4774T>C (p.Phe1592Leu)	rs200152962	0.00012
NM_006846.4(SPINK5):c.3113C>A (p.Thr1038Lys)	rs370311628	0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)	rs28997573	0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_005476.7(GNE):c.1651A>G (p.Ile551Val)	rs754313408	0.00008
NM_138387.4(G6PC3):c.727G>A (p.Val243Met)	rs140785361	0.00008
NM_000057.4(BLM):c.3558+1G>T	rs148969222	0.00006
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile)	rs200519753	0.00006
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)	rs371500701	0.00006
NM_020070.4(IGLL1):c.221G>A (p.Arg74His)	rs368706509	0.00005
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)	rs756105620	0.00004
NM_005026.5(PIK3CD):c.2347+6G>A	rs368607726	0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)	rs45476495	0.00004
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)	rs142620413	0.00003
NM_001382567.1(STIM1):c.1382T>C (p.Met461Thr)	rs1444907403	0.00003
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)	rs80358559	0.00002
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)	rs752532498	0.00002
NM_000551.4(VHL):c.439A>G (p.Ile147Val)	rs1057517560	0.00002
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)	rs587782535	0.00001
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)	rs756463217	0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)	rs80358940	0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)	rs767302089	0.00001
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr)	rs1165230596	0.00001
NM_000222.3(KIT):c.2264C>T (p.Ala755Val)	rs758252647	0.00001
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)	rs149517557	0.00001
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys)	rs561190476	0.00001
NM_001364905.1(LRBA):c.5293G>A (p.Gly1765Arg)	rs368450966	0.00001
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val)	rs779791657	0.00001
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)	rs786203346	0.00001
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)	rs180177112	0.00001
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)	rs45603843	0.00001
NM_203447.4(DOCK8):c.1441G>A (p.Asp481Asn)	rs374938180	0.00001
GRCh37/hg19 16p12.2(chr16:23614483-23619333)x1
GRCh37/hg19 16p13.3(chr16:176680-177522)x1
GRCh37/hg19 17q22(chr17:56787220-56811584)x1
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)	rs80359351
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)	rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)	rs80359306
NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)	rs1469541725
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)	rs80359405
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)	rs80359459
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)	rs80359460
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)	rs80359479
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)	rs55953736
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)	rs80359688
NM_000059.4(BRCA2):c.7977-1G>C	rs81002874
NM_000059.4(BRCA2):c.8487+3A>G	rs81002806
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)	rs1401510742
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)	rs80359770
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.2317G>A (p.Val773Met)
NM_000081.4(LYST):c.6833A>G (p.Tyr2278Cys)
NM_000136.3(FANCC):c.455dup (p.Asn152fs)	rs774170058
NM_000222.3(KIT):c.1666C>G (p.Gln556Glu)	rs1722301014
NM_000313.4(PROS1):c.1323_1323+1del	rs1708347661
NM_000397.4(CYBB):c.46-2A>T	rs2146803092
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)	rs5030826
NM_000565.4(IL6R):c.992T>C (p.Met331Thr)
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro)	rs773847165
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)	rs1210148997
NM_001364905.1(LRBA):c.4876_4877delinsTT (p.Ala1626Leu)	rs1560877215
NM_001382567.1(STIM1):c.700_707del (p.Asn234fs)	rs1590688717
NM_001754.5(RUNX1):c.70G>A (p.Gly24Arg)	rs1399187182
NM_001754.5(RUNX1):c.844G>A (p.Asp282Asn)	rs762953695
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)	rs377730553
NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)	rs1967196253
NM_005263.5(GFI1):c.79C>T (p.Leu27Phe)	rs1658376438
NM_024675.4(PALB2):c.1490del (p.Asn497fs)	rs1555461253
NM_024675.4(PALB2):c.2571G>A (p.Leu857=)	rs587780821
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe)	rs1946427260
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)	rs1056085
NM_032638.5(GATA2):c.1360C>T (p.Pro454Ser)	rs774297463
NM_032638.5(GATA2):c.25C>T (p.Arg9Cys)	rs1436974541
NM_032638.5(GATA2):c.299_300delinsTT (p.Gly100Val)	rs1060500084
NM_058216.3(RAD51C):c.672_705+65dup	rs1555597214
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly)	rs1555602136
NM_139276.3(STAT3):c.875C>G (p.Ser292Cys)	rs1598415625

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