Variants with conflicting interpretations studied for Fanconi anemia complementation group A

Minimum review status of the submission for Fanconi anemia complementation group A:		Collection method of the submission for Fanconi anemia complementation group A:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
631	516	0	220	203	0	60	450

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Fanconi anemia complementation group A		pathogenic	likely pathogenic	uncertain significance	likely benign	benign
	pathogenic	0	117	29	7	7
	likely pathogenic	139	0	22	3	1
	uncertain significance	33	24	0	178	38
	likely benign	2	1	23	0	48
	benign	5	0	8	24	0

Condition to condition summary #

Total conditions: 2

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Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Fanconi anemia	0	499	0	203	203	0	51	427
Fanconi anemia complementation group A	1199	241	0	108	24	0	37	157

All variants with conflicting interpretations #

Total variants: 450

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	rs2239359	0.51262
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)	rs7195066	0.46389
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)	rs9282681	0.05868
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)	rs17233497	0.05303
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)	rs17232246	0.04972
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)	rs76275444	0.04436
NM_000135.4(FANCA):c.3348+18A>G	rs1800347	0.02828
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)	rs17227354	0.02526
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)	rs36070315	0.02463
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)	rs1131660	0.02234
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)	rs17225943	0.01851
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	rs1800362	0.01494
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser)	rs144917960	0.00895
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	rs117125761	0.00708
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	rs17233141	0.00567
NM_000135.4(FANCA):c.1826+12C>T	rs183513839	0.00518
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	rs1800361	0.00511
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)	rs145522204	0.00460
NM_000135.4(FANCA):c.903G>T (p.Val301=)	rs56062548	0.00432
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	rs17227403	0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	rs1800368	0.00361
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)	rs45441106	0.00341
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)	rs75501942	0.00334
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)	rs144420697	0.00325
NM_000135.4(FANCA):c.1626+16C>T	rs1800333	0.00322
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)	rs13336566	0.00303
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)	rs17227361	0.00286
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	rs1800365	0.00275
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)	rs17232973	0.00257
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	rs41281202	0.00236
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	rs139235751	0.00230
NM_000135.4(FANCA):c.3514-4A>G	rs149388130	0.00219
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)	rs77021998	0.00214
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)	rs1800338	0.00201
NM_000135.4(FANCA):c.694A>C (p.Arg232=)	rs61757384	0.00184
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)	rs74977201	0.00176
NM_000135.4(FANCA):c.1471-12A>G	rs9282684	0.00163
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)	rs140823801	0.00137
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	rs140781259	0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)	rs149112292	0.00125
NM_000135.4(FANCA):c.80-13C>T	rs189841793	0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)	rs142959373	0.00109
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)	rs147021911	0.00104
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)	rs147017625	0.00083
NM_000135.4(FANCA):c.2364C>T (p.Ala788=)	rs149754397	0.00064
NM_000135.4(FANCA):c.3514-13G>A	rs200270574	0.00056
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)	rs17227396	0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	rs139002130	0.00055
NM_000135.4(FANCA):c.1047G>A (p.Ala349=)	rs144900606	0.00053
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	rs1800346	0.00053
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)	rs61753269	0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	rs143671872	0.00047
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)	rs35110529	0.00045
NM_000135.4(FANCA):c.3408+9C>G	rs377702890	0.00043
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)	rs141367100	0.00042
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)	rs138417003	0.00041
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)	rs142217479	0.00037
NM_000135.4(FANCA):c.3981C>T (p.His1327=)	rs141278771	0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	rs143642304	0.00035
NM_000135.4(FANCA):c.480G>A (p.Met160Ile)	rs200603300	0.00031
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)	rs149551759	0.00029
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)	rs149435806	0.00029
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)	rs141861208	0.00029
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)	rs138248569	0.00026
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)	rs56369086	0.00025
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)	rs148250597	0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=)	rs56190097	0.00025
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)	rs72807571	0.00024
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)	rs762648754	0.00024
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)	rs146491000	0.00022
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)	rs143772894	0.00022
NM_000135.4(FANCA):c.3829-9G>A	rs776077648	0.00022
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)	rs202107465	0.00021
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)	rs142784426	0.00021
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)	rs61757383	0.00019
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)	rs147672303	0.00019
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)	rs147176389	0.00017
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)	rs146975341	0.00017
NM_000135.4(FANCA):c.874C>G (p.His292Asp)	rs200220791	0.00017
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)	rs151089298	0.00016
NM_000135.4(FANCA):c.2152-20T>A	rs200403206	0.00016
NM_000135.4(FANCA):c.2504+6C>G	rs749556479	0.00016
NM_000135.4(FANCA):c.3348+7G>T	rs185527578	0.00016
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)	rs144560850	0.00016
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)	rs372534421	0.00016
NM_000135.4(FANCA):c.1413C>T (p.Val471=)	rs201561753	0.00015
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	rs149775657	0.00015
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)	rs200698961	0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)	rs188695241	0.00014
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	rs755922289	0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)	rs200713354	0.00013
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)	rs556748657	0.00012
NM_000135.4(FANCA):c.3935-6T>C	rs368376237	0.00012
NM_000135.4(FANCA):c.4261-9C>G	rs368506826	0.00012
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	rs761341952	0.00012
NM_000135.4(FANCA):c.1683G>A (p.Thr561=)	rs143451067	0.00011
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)	rs767396631	0.00011
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)	rs575108446	0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	rs139289675	0.00011
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)	rs376103033	0.00011
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)	rs146609069	0.00011
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)	rs747322973	0.00010
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)	rs369988875	0.00009
NM_000135.4(FANCA):c.1900+7T>A	rs377401016	0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)	rs145552439	0.00009
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)	rs774863156	0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)	rs55758861	0.00009
NM_000135.4(FANCA):c.3138C>T (p.His1046=)	rs150884376	0.00009
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)	rs774576283	0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)	rs199652831	0.00009
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)	rs139478274	0.00009
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)	rs370346767	0.00009
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)	rs367880372	0.00008
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)	rs200093209	0.00008
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)	rs199601218	0.00008
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)	rs185984960	0.00008
NM_000135.4(FANCA):c.1225+14C>T	rs376558078	0.00007
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)	rs755925068	0.00007
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)	rs200922390	0.00007
NM_000135.4(FANCA):c.2222+7G>A	rs374312736	0.00007
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)	rs757175768	0.00007
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)	rs369765552	0.00007
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)	rs148419748	0.00007
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)	rs555519520	0.00007
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)	rs201212806	0.00006
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)	rs550064744	0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=)	rs56267906	0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)	rs142377616	0.00006
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	rs149277003	0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	rs149797103	0.00006
NM_000135.4(FANCA):c.3766-14G>A	rs34476949	0.00006
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)	rs376523966	0.00006
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)	rs374649848	0.00006
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)	rs145886270	0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)	rs201494304	0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)	rs201658945	0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)	rs374984587	0.00006
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)	rs199967286	0.00005
NM_000135.4(FANCA):c.2015-5C>T	rs780349960	0.00005
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)	rs201589909	0.00005
NM_000135.4(FANCA):c.2152-13T>C	rs752105563	0.00005
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)	rs751015814	0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	rs372254398	0.00005
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)	rs376302719	0.00005
NM_000135.4(FANCA):c.2778+10C>T	rs371786839	0.00005
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)	rs144171225	0.00005
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)	rs35566151	0.00005
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)	rs72552377	0.00005
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)	rs200291237	0.00004
NM_000135.4(FANCA):c.1777-15C>G	rs371919426	0.00004
NM_000135.4(FANCA):c.189+7G>A	rs369985388	0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)	rs140785340	0.00004
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)	rs537923341	0.00004
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)	rs370085403	0.00004
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)	rs200022826	0.00004
NM_000135.4(FANCA):c.3349-1G>A	rs769862233	0.00004
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)	rs762837582	0.00004
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	rs762902309	0.00004
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)	rs760814763	0.00004
NM_000135.4(FANCA):c.793-9T>C	rs757500718	0.00004
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)	rs764121307	0.00004
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)	rs773318145	0.00003
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)	rs778093769	0.00003
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)	rs773613283	0.00003
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)	rs1306842168	0.00003
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)	rs368953287	0.00003
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)	rs779268656	0.00003
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)	rs759303096	0.00003
NM_000135.4(FANCA):c.3627-8T>G	rs77877981	0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	rs149851163	0.00003
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)	rs774448881	0.00003
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)	rs587778323	0.00003
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)	rs750257902	0.00002
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)	rs531100141	0.00002
NM_000135.4(FANCA):c.1226-12G>C	rs36011345	0.00002
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)	rs780135578	0.00002
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	rs148473140	0.00002
NM_000135.4(FANCA):c.1567-11C>A	rs34353618	0.00002
NM_000135.4(FANCA):c.190-2A>T	rs183350210	0.00002
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)	rs587778312	0.00002
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)	rs371458363	0.00002
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)	rs762439008	0.00002
NM_000135.4(FANCA):c.2778+1G>A	rs140180549	0.00002
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)	rs777825824	0.00002
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)	rs146062039	0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)	rs142833057	0.00002
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)	rs577625130	0.00002
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)	rs201886956	0.00002
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)	rs145148206	0.00002
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)	rs769243354	0.00002
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)	rs201992220	0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=)	rs752311383	0.00002
NM_000135.4(FANCA):c.87G>A (p.Arg29=)	rs760787108	0.00002
NM_032444.4(SLX4):c.4739+7G>A	rs748897456	0.00002
NM_000135.4(FANCA):c.1007-17T>C	rs760059831	0.00001
NM_000135.4(FANCA):c.1007-7C>G	rs111271660	0.00001
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr)	rs757760966	0.00001
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)	rs1280130060	0.00001
NM_000135.4(FANCA):c.1226-2A>G	rs773906241	0.00001
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)	rs139276494	0.00001
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)	rs553129361	0.00001
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)	rs757504102	0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)	rs529199293	0.00001
NM_000135.4(FANCA):c.1776+1G>A	rs756140957	0.00001
NM_000135.4(FANCA):c.1944del (p.Glu648fs)	rs1555549451	0.00001
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)	rs748579719	0.00001
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)	rs1448463647	0.00001
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro)	rs762526878	0.00001
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)	rs746373917	0.00001
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)	rs148203537	0.00001
NM_000135.4(FANCA):c.2152-10G>C	rs557705265	0.00001
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)	rs2039278551	0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)	rs1490352414	0.00001
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)	rs765883419	0.00001
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)	rs1173704265	0.00001
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	rs752160950	0.00001
NM_000135.4(FANCA):c.2601+1G>T	rs1188581065	0.00001
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	rs780825099	0.00001
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	rs1302083447	0.00001
NM_000135.4(FANCA):c.2853-2A>C	rs947311062	0.00001
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)	rs199916178	0.00001
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)	rs191943709	0.00001
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)	rs140124051	0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)	rs753864057	0.00001
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)	rs762719233	0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)	rs772828870	0.00001
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)	rs1439817346	0.00001
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)	rs765106818	0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)	rs372706571	0.00001
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)	rs201492940	0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)	rs748713183	0.00001
NM_000135.4(FANCA):c.3626+7G>A	rs933657325	0.00001
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)	rs1374769712	0.00001
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)	rs769919783	0.00001
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)	rs745665658	0.00001
NM_000135.4(FANCA):c.3766-2A>G	rs1219402916	0.00001
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)	rs768380959	0.00001
NM_000135.4(FANCA):c.3858C>T (p.His1286=)	rs761705192	0.00001
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	rs753700179	0.00001
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	rs182657062	0.00001
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)	rs1555581729	0.00001
NM_000135.4(FANCA):c.4010+12C>T	rs1445940471	0.00001
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	rs745882980	0.00001
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)	rs1384166265	0.00001
NM_000135.4(FANCA):c.582A>G (p.Gln194=)	rs748517164	0.00001
NM_000135.4(FANCA):c.597-1G>C	rs147945881	0.00001
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)	rs886052487	0.00001
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_000135.4(FANCA):c.793-3C>G	rs749688050	0.00001
NM_000135.4(FANCA):c.797C>T (p.Thr266Met)	rs752799441	0.00001
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)	rs372163487	0.00001
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	rs1291524243	0.00001
NM_000135.4(FANCA):c.894-2A>G	rs976556567	0.00001
NM_000135.4(FANCA):c.991del (p.Ser331fs)	rs746236214	0.00001
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)	rs183784665	0.00001
NM_000135.4(FANCA):c.1007-2A>G	rs2040110878
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)	rs769580546
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	rs878853660
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)	rs1800331
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)	rs752864343
NM_000135.4(FANCA):c.1194del (p.Cys399fs)	rs2040090995
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	rs1484087361
NM_000135.4(FANCA):c.1226-1G>C	rs1417768931
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)	rs774026652
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)	rs1158456786
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)	rs1800332
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)	rs1416639878
NM_000135.4(FANCA):c.1294del (p.Leu432fs)	rs1211579979
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)	rs1060501879
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	rs1060501879
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)	rs2040074214
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)	rs149551759
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)	rs1567635573
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)	rs2039844868
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)	rs1266348463
NM_000135.4(FANCA):c.1470+2T>C	rs2039844134
NM_000135.4(FANCA):c.1471-10C>G	rs368356709
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)	rs925457555
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)	rs925457555
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)	rs781524409
NM_000135.4(FANCA):c.1567-1G>C	rs1464032361
NM_000135.4(FANCA):c.1567-20A>G	rs775154397
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)	rs769047348
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)	rs1555580427
NM_000135.4(FANCA):c.1776+7A>G	rs1555552070
NM_000135.4(FANCA):c.1777-3_1783del	rs2039605605
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)	rs562319781
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)	rs1555552006
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)	rs1343140664
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)	rs759899153
NM_000135.4(FANCA):c.1827-2A>G	rs2143393518
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)	rs2041095238
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)	rs2143393148
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
NM_000135.4(FANCA):c.189+2T>A	rs2041094594
NM_000135.4(FANCA):c.190-1G>T	rs765277254
NM_000135.4(FANCA):c.1901-3C>A	rs17226526
NM_000135.4(FANCA):c.1901-9T>G	rs886052486
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)	rs780667753
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)	rs772751654
NM_000135.4(FANCA):c.1A>G (p.Met1Val)	rs772751654
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)	rs772751654
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)	rs2143366568
NM_000135.4(FANCA):c.2014+1G>C	rs1598116164
NM_000135.4(FANCA):c.2015-1G>T	rs1555548632
NM_000135.4(FANCA):c.2015-4G>T	rs373954227
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)	rs17232973
NM_000135.4(FANCA):c.2026_2027dup (p.Gln676fs)	rs2143351554
NM_000135.4(FANCA):c.2051_2052del (p.Leu684fs)
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer)	rs2143711627
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)	rs1555548512
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)	rs1567618907
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)	rs1555547935
NM_000135.4(FANCA):c.2184_2185del (p.Asn729fs)
NM_000135.4(FANCA):c.2222+1G>C	rs775388912
NM_000135.4(FANCA):c.2222+1G>T	rs775388912
NM_000135.4(FANCA):c.2223-8C>G	rs1598110961
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)	rs137913973
NM_000135.4(FANCA):c.2316+1_2316+3del	rs2039275264
NM_000135.4(FANCA):c.2316+9C>T	rs776301232
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)	rs1555547474
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)	rs1363946483
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)	rs201152989
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)	rs1310756192
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)	rs2039260856
NM_000135.4(FANCA):c.2524del (p.Ser842fs)	rs1205909298
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)	rs1247378731
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)	rs1452688134
NM_000135.4(FANCA):c.2602-13CT[2]	rs577636020
NM_000135.4(FANCA):c.2602-19G>C	rs17233225
NM_000135.4(FANCA):c.2602-2A>C	rs1555545592
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val)	rs1555545588
NM_000135.4(FANCA):c.2604_2609del
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)	rs1017086086
NM_000135.4(FANCA):c.2667del (p.Ser890fs)	rs1555545517
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)	rs1183559927
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)	rs1555545421
NM_000135.4(FANCA):c.2778+2T>C	rs1458001028
NM_000135.4(FANCA):c.2778+83C>G	rs750997715
NM_000135.4(FANCA):c.283+1G>A	rs1232171121
NM_000135.4(FANCA):c.283+1G>T	rs1232171121
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)	rs756367276
NM_000135.4(FANCA):c.284-9G>C	rs367672895
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	rs755546887
NM_000135.4(FANCA):c.2852+1dup
NM_000135.4(FANCA):c.2853-15_2856del	rs1285346388
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)	rs149112292
NM_000135.4(FANCA):c.2860T>A (p.Phe954Ile)
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)	rs568354015
NM_000135.4(FANCA):c.2910del (p.Gly972fs)	rs1278836130
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)	rs769479800
NM_000135.4(FANCA):c.3066+1G>A	rs587783028
NM_000135.4(FANCA):c.3066+1G>T	rs587783028
NM_000135.4(FANCA):c.306del (p.Ser103fs)
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)	rs1405317971
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)	rs2143139166
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	rs753063086
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)	rs1429943036
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)	rs1429943036
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)	rs776391208
NM_000135.4(FANCA):c.3239+1dup	rs766989857
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)	rs1555538571
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)	rs536839082
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)	rs2038476999
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)	rs994416299
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro)	rs752837228
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)	rs2038474528
NM_000135.4(FANCA):c.3397del (p.His1133fs)	rs758917273
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)	rs786204246
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)	rs1555537347
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)	rs545772434
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)	rs2038399117
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)	rs2038398856
NM_000135.4(FANCA):c.3519G>A (p.Trp1173Ter)
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)	rs886052482
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)	rs1185165443
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)	rs751309143
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)	rs1555536390
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)	rs1390620949
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)	rs1381684916
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)	rs1380850249
NM_000135.4(FANCA):c.3627-1G>A	rs2062172440
NM_000135.4(FANCA):c.3627-3_3627-2del	rs2062172458
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)	rs1555535527
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)	rs545742908
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)	rs868273545
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)	rs139160837
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)	rs139160837
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)	rs1183256870
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)	rs587778319
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)	rs886052480
NM_000135.4(FANCA):c.3828+1G>A	rs1432988639
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)	rs142919010
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)	rs142919010
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)	rs2062089336
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)	rs986710868
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)	rs986710868
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg)	rs878853665
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)	rs2151714613
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
NM_000135.4(FANCA):c.3934+1G>A	rs2062087795
NM_000135.4(FANCA):c.3934+2T>C	rs771775516
NM_000135.4(FANCA):c.3935-1G>T	rs1555533693
NM_000135.4(FANCA):c.3935-7G>A	rs2062071481
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)	rs755375493
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)	rs2151712879
NM_000135.4(FANCA):c.4010+1G>A	rs2062067810
NM_000135.4(FANCA):c.4010+1_4010+18del	rs752457319
NM_000135.4(FANCA):c.4010+2T>C	rs2062067746
NM_000135.4(FANCA):c.401dup (p.Val135fs)	rs1555575253
NM_000135.4(FANCA):c.402T>C (p.Pro134=)	rs745666586
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)	rs2062057880
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)	rs1555533313
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)	rs1336834251
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)	rs1209384219
NM_000135.4(FANCA):c.4168-4C>T	rs775180524
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)	rs940187828
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)	rs2040853392
NM_000135.4(FANCA):c.426+1G>A	rs1343463467
NM_000135.4(FANCA):c.426+2T>G	rs1598190568
NM_000135.4(FANCA):c.4260+1dup	rs1555532944
NM_000135.4(FANCA):c.4261-19_4261-12del	rs1567591276
NM_000135.4(FANCA):c.4261-2A>C	rs915983602
NM_000135.4(FANCA):c.4261-2A>G	rs915983602
NM_000135.4(FANCA):c.427-2A>G	rs765684774
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)	rs1598048941
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)	rs748856769
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)	rs776297241
NM_000135.4(FANCA):c.709+2T>C	rs1555571116
NM_000135.4(FANCA):c.709+5G>T	rs759877008
NM_000135.4(FANCA):c.710-10G>A	rs2040524006
NM_000135.4(FANCA):c.710-142_710-141dup	rs17232344
NM_000135.4(FANCA):c.710-1G>C	rs1388128874
NM_000135.4(FANCA):c.80-8C>G	rs749080227
NM_000135.4(FANCA):c.820C>T (p.Leu274=)	rs2040370137
NM_000135.4(FANCA):c.827-1G>T	rs753728435
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)	rs2041102320
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)	rs1348367722
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)	rs764122657
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)	rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)	rs1447363475
NM_000135.4(FANCA):c.987_990del (p.His330fs)	rs772359099
NM_000136.3(FANCC):c.345+4AG[2]	rs755657969
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=)	rs72492998
NM_006296.7(VRK2):c.102_105dup	rs759217526
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)	rs1596520443
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)	rs137976282
Single allele

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