List of variants reported as likely benign for hematologic disorder by KCCC/NGS Laboratory, Kuwait Cancer Control Center

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

Total variants: 88

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HGVS	dbSNP	gnomAD frequency
NM_001113378.2(FANCI):c.3816+15A>T	rs28493988	0.02368
NM_021922.3(FANCE):c.-56C>T	rs4713866	0.01055
NM_000135.4(FANCA):c.1826+12C>T	rs183513839	0.00518
NM_001113378.2(FANCI):c.976-13A>T	rs145864790	0.00501
NM_002485.5(NBN):c.702+84G>C	rs104895036	0.00405
NM_000135.4(FANCA):c.3348+29C>T	rs1800348	0.00360
NM_000135.4(FANCA):c.1626+16C>T	rs1800333	0.00322
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)	rs13336566	0.00303
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)	rs41287112	0.00287
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)	rs28385141	0.00245
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)	rs41287108	0.00236
NM_001018115.3(FANCD2):c.-6G>C	rs3732974	0.00227
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)	rs73505420	0.00210
NM_000135.4(FANCA):c.694A>C (p.Arg232=)	rs61757384	0.00184
NM_001018115.3(FANCD2):c.4281+115C>A	rs78896323	0.00179
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)	rs140088149	0.00173
NM_000553.6(WRN):c.2937T>G (p.Ile979Met)	rs147802438	0.00131
NM_000377.3(WAS):c.1453+16C>T	rs200543049	0.00115
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp)	rs142008398	0.00114
NM_000135.4(FANCA):c.80-13C>T	rs189841793	0.00110
NM_198253.3(TERT):c.572G>C (p.Ser191Thr)	rs11952056	0.00100
NM_000553.6(WRN):c.107G>A (p.Arg36Gln)	rs34084741	0.00091
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)	rs146054214	0.00085
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)	rs139382267	0.00083
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)	rs45510294	0.00075
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)	rs202080221	0.00066
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)	rs143819820	0.00061
NM_198253.3(TERT):c.1836C>G (p.Ala612=)	rs34170122	0.00056
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	rs1800346	0.00053
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)	rs200742809	0.00047
NM_005188.4(CBL):c.12C>T (p.Asn4=)	rs371567712	0.00036
NM_198253.3(TERT):c.2582+11C>T	rs180675821	0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	rs143642304	0.00035
NM_032444.4(SLX4):c.1470C>T (p.Leu490=)	rs139766312	0.00031
NM_198253.3(TERT):c.1932G>A (p.Thr644=)	rs148582238	0.00031
NM_198253.3(TERT):c.2991G>A (p.Val997=)	rs376266401	0.00030
NM_000057.4(BLM):c.2115T>C (p.Val705=)	rs142787700	0.00029
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)	rs149435806	0.00029
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)	rs201422773	0.00028
NM_032444.4(SLX4):c.86G>A (p.Arg29His)	rs149117119	0.00026
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)	rs56369086	0.00025
NM_000553.6(WRN):c.3101A>T (p.Tyr1034Phe)	rs200370409	0.00024
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=)	rs145953386	0.00023
NM_020937.4(FANCM):c.2267G>A (p.Arg756His)	rs142763060	0.00020
NM_021922.3(FANCE):c.246G>A (p.Glu82=)	rs769779495	0.00020
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)	rs138026584	0.00019
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)	rs199701877	0.00018
NM_001754.5(RUNX1):c.1005G>T (p.Gln335His)	rs80314254	0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln)	rs201192909	0.00011
NM_000135.4(FANCA):c.342C>T (p.Ala114=)	rs777989691	0.00010
NM_000135.4(FANCA):c.1900+7T>A	rs377401016	0.00009
NM_005188.4(CBL):c.873T>C (p.Tyr291=)	rs756526812	0.00009
NM_001018115.3(FANCD2):c.672C>T (p.His224=)	rs371928644	0.00008
NM_001754.5(RUNX1):c.492C>T (p.Val164=)	rs200907577	0.00008
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr)	rs372625322	0.00008
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu)	rs534528576	0.00007
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)	rs142377616	0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=)	rs567226063	0.00006
NM_000377.3(WAS):c.1299G>A (p.Ala433=)	rs372649110	0.00006
NM_000553.6(WRN):c.3132G>A (p.Thr1044=)	rs775952540	0.00006
NM_000553.6(WRN):c.75A>G (p.Arg25=)	rs150524008	0.00006
NM_005188.4(CBL):c.6C>G (p.Ala2=)	rs770473070	0.00006
NM_005431.2(XRCC2):c.39+8C>G	rs200363289	0.00006
NM_032444.4(SLX4):c.165C>T (p.Cys55=)	rs202030834	0.00006
NM_032444.4(SLX4):c.1896G>C (p.Gly632=)	rs200859735	0.00006
NM_000135.4(FANCA):c.2015-5C>T	rs780349960	0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=)	rs150020474	0.00005
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val)	rs201408009	0.00005
NM_001018115.3(FANCD2):c.3850-17G>T	rs369702202	0.00005
NM_002485.5(NBN):c.481-4G>A	rs754864893	0.00004
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)	rs765990832	0.00003
NM_032444.4(SLX4):c.4485G>C (p.Ala1495=)	rs140872903	0.00003
NM_198253.3(TERT):c.2262C>T (p.His754=)	rs778622091	0.00003
NM_000136.3(FANCC):c.1161C>T (p.Cys387=)	rs548998258	0.00002
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)	rs556958354	0.00002
NM_000135.4(FANCA):c.2502G>A (p.Leu834=)	rs770993950	0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)	rs372706571	0.00001
NM_002485.5(NBN):c.2247T>C (p.Tyr749=)	rs762740478	0.00001
NM_198253.3(TERT):c.729C>T (p.Ala243=)	rs762491880	0.00001
NM_000135.4(FANCA):c.1290G>T (p.Ala430=)	rs1800332
NM_000135.4(FANCA):c.2602-19G>C	rs17233225
NM_000136.3(FANCC):c.1200C>T (p.Phe400=)	rs767215159
NM_000377.3(WAS):c.210G>A (p.Gly70=)	rs886038288
NM_001018115.3(FANCD2):c.1098+27A>G	rs189978498
NM_001083116.3(PRF1):c.539+22G>C	rs12263464
NM_032444.4(SLX4):c.426T>A (p.Gly142=)	rs377500336
NM_032444.4(SLX4):c.5250G>A (p.Ala1750=)	rs370495748
NM_198253.3(TERT):c.1662C>T (p.Val554=)	rs200539091

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