List of variants reported as not provided for aplastic anemia

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

Total variants: 87

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HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=)	rs2736098	0.21206
NM_198253.3(TERT):c.835G>A (p.Ala279Thr)	rs61748181	0.02258
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)	rs35719940	0.01370
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	rs34094720	0.00316
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	rs45589637	0.00041
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)	rs138248569	0.00026
NM_000136.3(FANCC):c.456+4A>T	rs104886456	0.00021
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)	rs61756147	0.00021
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	rs80359550	0.00019
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)	rs121918661	0.00018
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)	rs138618354	0.00015
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
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_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)	rs28997573	0.00011
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)	rs121918664	0.00009
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	rs104886457	0.00007
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)	rs756105620	0.00004
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)	rs374537936	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_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)	rs80358559	0.00002
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)	rs752532498	0.00002
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	rs104886458	0.00002
NM_004629.2(FANCG):c.1480+1G>C	rs149616199	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.3264dup (p.Gln1089fs)	rs80359380	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_000135.4(FANCA):c.2738A>C (p.His913Pro)	rs1302083447	0.00001
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	rs121917784	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_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys)	rs561190476	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_198253.3(TERT):c.2080G>A (p.Val694Met)	rs121918662	0.00001
GRCh37/hg19 16p12.2(chr16:23614483-23619333)x1
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
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.5576_5579del (p.Ile1859fs)	rs80359520
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.8817_8820del (p.Lys2939fs)	rs397508010
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)	rs80359770
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	rs397507552
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000136.3(FANCC):c.165+1G>T	rs794726668
NM_000136.3(FANCC):c.455dup (p.Asn152fs)	rs774170058
NM_000136.3(FANCC):c.67del (p.Asp23fs)	rs104886459
NM_000987.5(RPL26):c.341del (p.Asp114fs)	rs2151671987
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro)	rs773847165
NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu)	rs199422317
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)	rs1210148997
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)	rs377730553
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs)	rs397507559
NM_004629.2(FANCG):c.307+1G>C	rs200479612
NM_004629.2(FANCG):c.925-2A>G	rs397507561
NM_024675.4(PALB2):c.1490del (p.Asn497fs)	rs1555461253
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)	rs886039480
NM_024675.4(PALB2):c.2571G>A (p.Leu857=)	rs587780821
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092
NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)	rs1056085
NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr)	rs753733757
NM_058216.3(RAD51C):c.672_705+65dup	rs1555597214
NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly)	rs1555602136
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)	rs199422298
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)	rs121918663
NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys)	rs199422302
NM_198253.3(TERT):c.2628C>G (p.His876Gln)	rs199422303
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)	rs199422305
NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg)	rs199422307

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