List of variants reported as uncertain significance for DNA repair disease by Revvity Omics, Revvity

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

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	rs139235751	0.00230
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln)	rs150712805	0.00119
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val)	rs143189763	0.00111
NM_006502.3(POLH):c.698A>G (p.Asn233Ser)	rs61756403	0.00083
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	rs139002130	0.00055
NM_004629.2(FANCG):c.478G>A (p.Ala160Thr)	rs140534765	0.00051
NM_001983.4(ERCC1):c.191C>T (p.Ala64Val)	rs142631483	0.00045
NM_005732.4(RAD50):c.260G>A (p.Arg87His)	rs374561375	0.00042
NM_001113378.2(FANCI):c.3896G>T (p.Arg1299Leu)	rs138663330	0.00038
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)	rs147492092	0.00036
NM_022725.4(FANCF):c.91G>A (p.Val31Met)	rs11556562	0.00034
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)	rs149584080	0.00031
NM_032444.4(SLX4):c.2585G>A (p.Arg862Gln)	rs143558209	0.00030
NM_032444.4(SLX4):c.5212G>T (p.Gly1738Trp)	rs556217576	0.00025
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)	rs28903098	0.00024
NM_001113378.2(FANCI):c.1052A>T (p.Gln351Leu)	rs147873714	0.00020
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)	rs147176389	0.00017
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	rs149775657	0.00015
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)	rs188695241	0.00014
NM_004628.5(XPC):c.259G>C (p.Val87Leu)	rs374572265	0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp)	rs141597706	0.00014
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	rs139289675	0.00011
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)	rs150435015	0.00008
NM_032444.4(SLX4):c.4403G>A (p.Arg1468His)	rs574214196	0.00008
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)	rs201658945	0.00006
NM_000380.4(XPA):c.122C>T (p.Ala41Val)	rs778289269	0.00006
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala)	rs199562456	0.00006
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr)	rs1225225979	0.00006
NM_032043.3(BRIP1):c.1629-3T>C	rs587780828	0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu)	rs147755155	0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)	rs759031349	0.00006
NM_032444.4(SLX4):c.3101G>A (p.Arg1034His)	rs150453226	0.00006
NM_032444.4(SLX4):c.5072A>G (p.Asn1691Ser)	rs551385115	0.00006
NM_032444.4(SLX4):c.145G>A (p.Glu49Lys)	rs139757085	0.00005
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)	rs140529288	0.00005
NM_000136.3(FANCC):c.626G>A (p.Arg209His)	rs587778327	0.00004
NM_005732.4(RAD50):c.3716G>A (p.Arg1239Gln)	rs35861031	0.00004
NM_032444.4(SLX4):c.3746G>A (p.Ser1249Asn)	rs372991604	0.00004
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)	rs759303096	0.00003
NM_001195248.2(APTX):c.773A>G (p.His258Arg)	rs763987865	0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)	rs142132127	0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)	rs140233356	0.00003
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)	rs4988356	0.00002
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)	rs912838333	0.00001
NM_000135.4(FANCA):c.2817T>G (p.Ile939Met)	rs769970040	0.00001
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)	rs571668582	0.00001
NM_000136.3(FANCC):c.166-4_166-1dup	rs746016938	0.00001
NM_000136.3(FANCC):c.472G>C (p.Ala158Pro)	rs372338418	0.00001
NM_004628.5(XPC):c.940C>T (p.Arg314Trp)	rs914274804	0.00001
NM_004629.2(FANCG):c.1473A>G (p.Lys491=)	rs769921972	0.00001
NM_005732.4(RAD50):c.130A>T (p.Thr44Ser)	rs377388354	0.00001
NM_005732.4(RAD50):c.2468G>A (p.Arg823Gln)	rs572533256	0.00001
NM_005732.4(RAD50):c.3902A>G (p.Lys1301Arg)	rs201766077	0.00001
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)	rs749697038	0.00001
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr)	rs786203608	0.00001
NM_024675.4(PALB2):c.2659A>G (p.Ile887Val)	rs533814557	0.00001
NM_024675.4(PALB2):c.303T>G (p.Asp101Glu)	rs1417779335	0.00001
NM_032043.3(BRIP1):c.1195G>A (p.Glu399Lys)	rs587782816	0.00001
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met)	rs752092543
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)	rs587778318
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)	rs142919010
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)	rs555210441
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	rs370974124
NM_000380.4(XPA):c.733G>A (p.Glu245Lys)
NM_001018113.3(FANCB):c.1177C>T (p.Pro393Ser)
NM_001018113.3(FANCB):c.1317T>A (p.Ser439Arg)	rs776802337
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
NM_001018113.3(FANCB):c.2373C>G (p.Ser791Arg)
NM_001018113.3(FANCB):c.952-13C>T	rs1057515807
NM_001018115.3(FANCD2):c.1625G>A (p.Ser542Asn)
NM_001018115.3(FANCD2):c.1729G>A (p.Gly577Ser)
NM_001113378.2(FANCI):c.1051C>G (p.Gln351Glu)
NM_001113378.2(FANCI):c.204A>G (p.Ile68Met)
NM_001113378.2(FANCI):c.668A>C (p.Lys223Thr)
NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)
NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)
NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)
NM_004628.5(XPC):c.1246C>T (p.Arg416Cys)
NM_004628.5(XPC):c.806C>G (p.Ala269Gly)
NM_004629.2(FANCG):c.1144-3C>T
NM_004629.2(FANCG):c.1157C>A (p.Pro386His)	rs141147618
NM_004629.2(FANCG):c.1794C>G (p.Ser598Arg)
NM_005732.4(RAD50):c.2452G>A (p.Gly818Arg)
NM_005732.4(RAD50):c.3055C>G (p.Gln1019Glu)
NM_006296.7(VRK2):c.102_105dup	rs759217526
NM_006502.3(POLH):c.1613T>C (p.Leu538Pro)
NM_018062.4(FANCL):c.56A>G (p.Asn19Ser)
NM_018062.4(FANCL):c.730C>T (p.His244Tyr)
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)
NM_021922.3(FANCE):c.787G>A (p.Glu263Lys)
NM_022725.4(FANCF):c.952C>T (p.Pro318Ser)	rs746120363
NM_024675.4(PALB2):c.109-12T>A	rs774949203
NM_024675.4(PALB2):c.1918T>A (p.Ser640Thr)	rs876659058
NM_024675.4(PALB2):c.2267G>A (p.Cys756Tyr)	rs925044785
NM_024675.4(PALB2):c.3332C>T (p.Pro1111Leu)	rs772480747
NM_032043.3(BRIP1):c.1628+5G>A	rs754929230
NM_032043.3(BRIP1):c.1676C>G (p.Thr559Arg)	rs876658266
NM_032043.3(BRIP1):c.1825A>G (p.Thr609Ala)	rs189758577
NM_032043.3(BRIP1):c.2741T>C (p.Leu914Ser)	rs886053215
NM_032043.3(BRIP1):c.3020C>A (p.Ser1007Tyr)	rs886053214
NM_032043.3(BRIP1):c.626A>G (p.Lys209Arg)	rs748912293
NM_032444.4(SLX4):c.1045A>G (p.Arg349Gly)
NM_032444.4(SLX4):c.5195G>C (p.Gly1732Ala)
NM_032444.4(SLX4):c.678C>A (p.His226Gln)	rs28516461

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