ClinVar Miner

List of variants studied for DNA repair disease by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys) rs145613634 0.00103
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp) rs139002130 0.00055
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_000135.4(FANCA):c.577C>G (p.Leu193Val) rs141861208 0.00029
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val) rs138248569 0.00026
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg) rs146975341 0.00017
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 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_000135.4(FANCA):c.2029G>A (p.Val677Met) rs767396631 0.00011
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu) rs139289675 0.00011
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile) rs376888740 0.00010
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_005236.3(ERCC4):c.1676G>A (p.Gly559Asp) rs370896187 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.3008A>G (p.Asn1003Ser) rs757175768 0.00007
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457 0.00007
NM_000136.3(FANCC):c.889A>T (p.Met297Leu) rs730881719 0.00007
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr) rs374984587 0.00006
NM_004629.2(FANCG):c.1801C>T (p.Arg601Cys) rs368098479 0.00006
NM_004629.2(FANCG):c.464G>A (p.Arg155His) rs201099560 0.00006
NM_004629.2(FANCG):c.724C>T (p.Arg242Trp) rs574511407 0.00006
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005732.4(RAD50):c.610A>G (p.Lys204Glu) rs202197835 0.00006
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His) rs587782244 0.00005
NM_000135.4(FANCA):c.4015del (p.Leu1339fs) rs762902309 0.00004
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val) rs730881725 0.00004
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg) rs777111154 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln) rs730881729 0.00003
NM_000136.3(FANCC):c.46A>T (p.Met16Leu) rs1390412870 0.00003
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg) rs374915316 0.00003
NM_002485.5(NBN):c.2215C>G (p.Leu739Val) rs370058152 0.00003
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 0.00003
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu) rs780078373 0.00002
NM_002485.5(NBN):c.1871G>A (p.Arg624His) rs587782297 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_032444.4(SLX4):c.901A>C (p.Lys301Gln) rs571996250 0.00002
NM_000124.4(ERCC6):c.1997G>A (p.Arg666His) rs769904341 0.00001
NM_000135.4(FANCA):c.1279A>G (p.Met427Val) rs368103890 0.00001
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser) rs772828870 0.00001
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg) rs1437529209 0.00001
NM_000135.4(FANCA):c.876C>G (p.His292Gln) rs527897404 0.00001
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser) rs1415434775 0.00001
NM_000136.3(FANCC):c.706A>G (p.Met236Val) rs771319430 0.00001
NM_002485.5(NBN):c.2184+1G>T rs756363734 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_004629.2(FANCG):c.1077G>A (p.Arg359=) rs901079231 0.00001
NM_004629.2(FANCG):c.314A>G (p.Glu105Gly) rs769048669 0.00001
NM_004629.2(FANCG):c.869A>G (p.Tyr290Cys) rs779840229 0.00001
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) rs1298488189 0.00001
NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala) rs373587423 0.00001
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731 0.00001
NM_032043.3(BRIP1):c.2935A>G (p.Lys979Glu) rs730881627 0.00001
NM_000124.4(ERCC6):c.3481_3482delinsCC (p.Ser1161Pro) rs1590405627
NM_000135.2:c.1471-490_3627-655del
NM_000135.2:c.522+715_2852+656del
NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln)
NM_000135.4(FANCA):c.1626+967_2015-679del
NM_000135.4(FANCA):c.1827-2A>G rs2143393518
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile)
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser) rs2039157272
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu) rs2143731757
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser)
NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys)
NM_000135.4(FANCA):c.3548G>C (p.Cys1183Ser) rs2143088016
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys) rs751309143
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)
NM_000135.4(FANCA):c.37C>G (p.Gln13Glu) rs766131144
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.3898A>G (p.Ile1300Val) rs1232415717
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser)
NM_000135.4(FANCA):c.494C>T (p.Ser165Phe) rs141918444
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys) rs35566151
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser) rs587778324
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn) rs377078635
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile) rs863224609
NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs) rs587779904
NM_000136.3(FANCC):c.391G>A (p.Val131Ile) rs543546719
NM_001018115.3(FANCD2):c.1223G>T (p.Arg408Leu)
NM_001113525.2(ZNF276):c.*469G>C
NM_002485.5(NBN):c.1142del (p.Pro381fs) rs587781969
NM_002485.5(NBN):c.550G>T (p.Val184Phe) rs1554566641
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_004629.2(FANCG):c.1556G>A (p.Ser519Asn) rs1209146448
NM_004629.2(FANCG):c.1813C>T (p.Arg605Cys)
NM_004629.2(FANCG):c.910G>C (p.Glu304Gln)
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
NM_005236.3(ERCC4):c.1541A>G (p.Tyr514Cys)
NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met)
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys)
NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu)
NM_005236.3(ERCC4):c.1A>G (p.Met1Val)
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
NM_005236.3(ERCC4):c.2594C>T (p.Ser865Phe)
NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp)
NM_005236.3(ERCC4):c.520G>A (p.Gly174Ser)
NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter) rs2141946068
NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg)
NM_032043.3(BRIP1):c.2170A>C (p.Ile724Leu) rs2077032430
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn) rs142205392
NM_032444.4(SLX4):c.506C>T (p.Ser169Leu) rs776018346

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