ClinVar Miner

List of variants studied for DNA repair disease by Mendelics

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 340
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HGVS dbSNP
NM_000051.3(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1049C>T (p.Ala350Val) rs375049090
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1082C>A (p.Thr361Asn)
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1236G>T (p.Trp412Cys)
NM_000051.3(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.3(ATM):c.1273G>T (p.Ala425Ser)
NM_000051.3(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.3(ATM):c.1516G>T (p.Gly506Cys) rs587779816
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1745_1749del (p.Phe582Serfs)
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1825G>C (p.Glu609Gln)
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.2125-48T>C
NM_000051.3(ATM):c.2134T>G (p.Ser712Ala)
NM_000051.3(ATM):c.2167G>T (p.Val723Leu) rs1419404231
NM_000051.3(ATM):c.2182T>A (p.Cys728Ser)
NM_000051.3(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2336T>C (p.Met779Thr) rs587778066
NM_000051.3(ATM):c.2413C>T (p.Arg805Ter) rs780619951
NM_000051.3(ATM):c.2466+5G>T
NM_000051.3(ATM):c.2486C>A (p.Pro829Gln)
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2606C>G (p.Ala869Gly) rs145513717
NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.3(ATM):c.2770C>T (p.Arg924Trp) rs55723361
NM_000051.3(ATM):c.2879C>A (p.Pro960His) rs587779828
NM_000051.3(ATM):c.2921+4A>C
NM_000051.3(ATM):c.2927T>C (p.Val976Ala) rs146145357
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.2944C>T (p.Arg982Cys) rs587779830
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.3(ATM):c.3154-5C>T rs55719759
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3240C>A (p.Asp1080Glu) rs149911447
NM_000051.3(ATM):c.3256C>T (p.Arg1086Cys) rs201780199
NM_000051.3(ATM):c.3272_3273del (p.Glu1091Valfs)
NM_000051.3(ATM):c.3299C>T (p.Thr1100Met) rs189445371
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3398A>T (p.Glu1133Val)
NM_000051.3(ATM):c.3407A>G (p.His1136Arg) rs768490475
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.3693_3695delATC (p.Leu1231_Ser1232delinsPhe) rs786203389
NM_000051.3(ATM):c.3802delG (p.Val1268Terfs) rs587779834
NM_000051.3(ATM):c.3872T>C (p.Leu1291Pro)
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.3(ATM):c.395C>T (p.Ser132Phe) rs750969764
NM_000051.3(ATM):c.3978C>A (p.Asn1326Lys) rs778123057
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.3(ATM):c.4082A>G (p.Gln1361Arg) rs141921797
NM_000051.3(ATM):c.4091A>G (p.Asp1364Gly) rs751169467
NM_000051.3(ATM):c.4130A>G (p.Asn1377Ser)
NM_000051.3(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.3(ATM):c.4151A>G (p.His1384Arg) rs757172522
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.3(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4414T>G (p.Leu1472Val) rs539676759
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4775A>G (p.Glu1592Gly)
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.4777-6T>C
NM_000051.3(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5160C>A (p.Asn1720Lys)
NM_000051.3(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.3(ATM):c.520C>T (p.Leu174Phe)
NM_000051.3(ATM):c.5462G>T (p.Cys1821Phe)
NM_000051.3(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
NM_000051.3(ATM):c.5584C>T (p.Leu1862Phe)
NM_000051.3(ATM):c.55A>G (p.Arg19Gly)
NM_000051.3(ATM):c.5712dupA (p.Ser1905Ilefs) rs587781730
NM_000051.3(ATM):c.5753G>C (p.Arg1918Thr) rs148064985
NM_000051.3(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.3(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.3(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311
NM_000051.3(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.3(ATM):c.5917A>G (p.Arg1973Gly) rs786202089
NM_000051.3(ATM):c.5966T>G (p.Leu1989Trp)
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.6134C>A (p.Ala2045Asp) rs879254147
NM_000051.3(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.3(ATM):c.6185C>A (p.Ala2062Glu)
NM_000051.3(ATM):c.6260A>G (p.Glu2087Gly)
NM_000051.3(ATM):c.6343G>A (p.Val2115Ile) rs587780634
NM_000051.3(ATM):c.6348-1G>A rs1057517302
NM_000051.3(ATM):c.6404dup (p.Arg2136Lysfs) rs587782554
NM_000051.3(ATM):c.640delT (p.Ser214Profs) rs786204543
NM_000051.3(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.3(ATM):c.6503C>T (p.Ser2168Leu) rs200431631
NM_000051.3(ATM):c.6537T>G (p.Ile2179Met) rs146243469
NM_000051.3(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.3(ATM):c.6554T>C (p.Ile2185Thr) rs779611511
NM_000051.3(ATM):c.655T>C (p.Cys219Arg) rs771685059
NM_000051.3(ATM):c.6677T>C (p.Leu2226Pro)
NM_000051.3(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.3(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.3(ATM):c.6848C>T (p.Ser2283Leu) rs876660730
NM_000051.3(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.3(ATM):c.692A>G (p.His231Arg) rs587782229
NM_000051.3(ATM):c.6974C>T (p.Ala2325Val) rs200940211
NM_000051.3(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.3(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.3(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.7629+12_7629+15delTGAA rs1555124156
NM_000051.3(ATM):c.7630-2A>C rs587779866
NM_000051.3(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000051.3(ATM):c.7871G>C (p.Cys2624Ser)
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019
NM_000051.3(ATM):c.7886_7890delTATTA (p.Ile2629Serfs) rs1450394308
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.3(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304
NM_000051.3(ATM):c.8071C>T (p.Arg2691Cys) rs531980488
NM_000051.3(ATM):c.8156G>A (p.Arg2719His) rs55982963
NM_000051.3(ATM):c.8187A>C (p.Gln2729His) rs587781946
NM_000051.3(ATM):c.8228C>T (p.Thr2743Met) rs730881321
NM_000051.3(ATM):c.8246A>T (p.Lys2749Ile) rs779145081
NM_000051.3(ATM):c.8264_8268delATAAG (p.Tyr2755Cysfs) rs730881294
NM_000051.3(ATM):c.8275C>T (p.Pro2759Ser) rs764906663
NM_000051.3(ATM):c.8292_8293delTG (p.Ser2764Argfs) rs879254036
NM_000051.3(ATM):c.8484del (p.Gln2828Hisfs)
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.8495G>A (p.Arg2832His) rs529296539
NM_000051.3(ATM):c.8497T>C (p.Tyr2833His) rs774171813
NM_000051.3(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.3(ATM):c.8576C>T (p.Ser2859Phe) rs786203542
NM_000051.3(ATM):c.8790C>G (p.Cys2930Trp)
NM_000051.3(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000051.3(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000051.3(ATM):c.9146del (p.Phe3049Serfs)
NM_000051.3(ATM):c.9166G>T (p.Val3056Leu) rs371767164
NM_000051.3(ATM):c.94C>T (p.Arg32Cys) rs148061139
NM_000051.3(ATM):c.969A>G (p.Ile323Met)
NM_000057.3(BLM):c.1043dup (p.Met348Ilefs)
NM_000057.3(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1216A>G (p.Ile406Val)
NM_000057.3(BLM):c.1228C>T (p.Leu410Phe)
NM_000057.3(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.3(BLM):c.1481C>T (p.Thr494Ile) rs751600686
NM_000057.3(BLM):c.14C>T (p.Pro5Leu)
NM_000057.3(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.3(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.3(BLM):c.1888T>C (p.Ser630Pro)
NM_000057.3(BLM):c.1972A>G (p.Ile658Val)
NM_000057.3(BLM):c.199G>A (p.Val67Ile)
NM_000057.3(BLM):c.2106T>A (p.Pro702=) rs529421306
NM_000057.3(BLM):c.2207_2212delATCTGAinsTAGATTC (p.Tyr736Leufs) rs113993962
NM_000057.3(BLM):c.2237C>T (p.Ala746Val) rs769498533
NM_000057.3(BLM):c.2258T>A (p.Leu753Ter)
NM_000057.3(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.3(BLM):c.2362C>G (p.Leu788Val)
NM_000057.3(BLM):c.241A>G (p.Thr81Ala) rs1060500637
NM_000057.3(BLM):c.2474C>T (p.Pro825Leu) rs749632465
NM_000057.3(BLM):c.2475G>A (p.Pro825=) rs147587050
NM_000057.3(BLM):c.2497G>A (p.Ala833Thr)
NM_000057.3(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.3(BLM):c.2556-8T>C
NM_000057.3(BLM):c.2561G>A (p.Ser854Asn) rs758692622
NM_000057.3(BLM):c.2570T>C (p.Phe857Ser)
NM_000057.3(BLM):c.2576_2577del (p.Arg859Thrfs)
NM_000057.3(BLM):c.2594A>G (p.Tyr865Cys) rs777842626
NM_000057.3(BLM):c.2663-2A>G
NM_000057.3(BLM):c.2720C>T (p.Thr907Met) rs367953471
NM_000057.3(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.3(BLM):c.298_299delCA (p.Gln100Glufs) rs745807085
NM_000057.3(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.3(BLM):c.3065A>C (p.Asn1022Thr)
NM_000057.3(BLM):c.3098T>C (p.Ile1033Thr) rs1060500647
NM_000057.3(BLM):c.3340C>T (p.Leu1114=)
NM_000057.3(BLM):c.3427G>A (p.Glu1143Lys) rs140387675
NM_000057.3(BLM):c.3556A>G (p.Lys1186Glu)
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.3875-2A>G rs150421256
NM_000057.3(BLM):c.3991A>G (p.Arg1331Gly) rs150631940
NM_000057.3(BLM):c.4016T>C (p.Met1339Thr)
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000057.3(BLM):c.4148C>G (p.Ser1383Ter)
NM_000057.3(BLM):c.4196T>C (p.Met1399Thr)
NM_000057.3(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000057.3(BLM):c.532G>A (p.Val178Ile)
NM_000057.3(BLM):c.543C>A (p.Ser181Arg) rs761288442
NM_000057.3(BLM):c.572G>T (p.Arg191Ile) rs569086568
NM_000057.3(BLM):c.615G>C (p.Lys205Asn)
NM_000057.3(BLM):c.645C>G (p.Ser215Arg)
NM_000057.3(BLM):c.819_821delGAA (p.Lys273del) rs587779895
NM_000057.3(BLM):c.934T>G (p.Ser312Ala) rs372454889
NM_000057.3(BLM):c.968A>G (p.Lys323Arg) rs146504061
NM_000136.2(FANCC):c.1069C>G (p.Gln357Glu)
NM_000136.2(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.2(FANCC):c.1275C>G (p.Leu425=) rs767126985
NM_000136.2(FANCC):c.127G>A (p.Glu43Lys) rs374836770
NM_000136.2(FANCC):c.1363G>T (p.Ala455Ser) rs730881724
NM_000136.2(FANCC):c.1374A>C (p.Arg458Ser) rs56394801
NM_000136.2(FANCC):c.1393C>T (p.Gln465Ter)
NM_000136.2(FANCC):c.1495C>T (p.Pro499Ser)
NM_000136.2(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.2(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.2(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.2(FANCC):c.202G>A (p.Gly68Ser)
NM_000136.2(FANCC):c.28T>G (p.Cys10Gly) rs147479204
NM_000136.2(FANCC):c.29G>A (p.Cys10Tyr) rs143152201
NM_000136.2(FANCC):c.395C>G (p.Ala132Gly) rs587779905
NM_000136.2(FANCC):c.413T>G (p.Leu138Arg)
NM_000136.2(FANCC):c.456+4A>T rs104886456
NM_000136.2(FANCC):c.519del (p.Arg173Serfs)
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.2(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.2(FANCC):c.668T>C (p.Val223Ala) rs751410815
NM_000136.2(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.2(FANCC):c.839C>T (p.Ser280Leu) rs749230615
NM_000136.2(FANCC):c.843+5G>A rs369082921
NM_000136.2(FANCC):c.871T>C (p.Phe291Leu)
NM_000136.2(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_002485.4(NBN):c.119C>T (p.Ser40Leu) rs587781530
NM_002485.4(NBN):c.1228A>G (p.Ser410Gly) rs1185542329
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.1405G>T (p.Asp469Tyr) rs148205441
NM_002485.4(NBN):c.1471G>A (p.Glu491Lys) rs776900339
NM_002485.4(NBN):c.156_157delTT (p.Ser53Cysfs) rs767454740
NM_002485.4(NBN):c.171+4T>C rs587782290
NM_002485.4(NBN):c.1849G>A (p.Glu617Lys) rs766602873
NM_002485.4(NBN):c.1912T>C (p.Ser638Pro) rs199657566
NM_002485.4(NBN):c.2060A>C (p.Lys687Thr) rs186371605
NM_002485.4(NBN):c.2140C>G (p.Arg714Gly) rs730881864
NM_002485.4(NBN):c.2150C>T (p.Thr717Ile) rs1554555764
NM_002485.4(NBN):c.2215C>G (p.Leu739Val) rs370058152
NM_002485.4(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.4(NBN):c.266G>C (p.Arg89Pro) rs747315554
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.38-10T>A rs556807466
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.517A>G (p.Lys173Glu)
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002485.4(NBN):c.671G>A (p.Gly224Glu) rs199845467
NM_002485.4(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002485.4(NBN):c.803C>T (p.Thr268Met) rs535602436
NM_002485.4(NBN):c.806G>C (p.Cys269Ser)
NM_002485.4(NBN):c.80G>T (p.Gly27Val) rs755171159
NM_002485.4(NBN):c.929T>C (p.Ile310Thr) rs753812768
NM_002485.4(NBN):c.97A>G (p.Ile33Val)
NM_032043.2(BRIP1):c.-22C>A
NM_032043.2(BRIP1):c.1000G>T (p.Ala334Ser) rs535414791
NM_032043.2(BRIP1):c.1014A>G (p.Glu338=)
NM_032043.2(BRIP1):c.1066C>G (p.Arg356Gly)
NM_032043.2(BRIP1):c.1131A>G (p.Ile377Met)
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.2(BRIP1):c.1336A>C (p.Ile446Leu) rs786203496
NM_032043.2(BRIP1):c.1341-3C>G rs864622597
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1427C>G (p.Thr476Ser)
NM_032043.2(BRIP1):c.1473+6A>G rs587780827
NM_032043.2(BRIP1):c.1616G>A (p.Arg539Lys) rs199616792
NM_032043.2(BRIP1):c.1629-3T>C rs587780828
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.2(BRIP1):c.1919T>C (p.Ile640Thr)
NM_032043.2(BRIP1):c.1935+5G>A
NM_032043.2(BRIP1):c.1936-2A>C
NM_032043.2(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.2(BRIP1):c.205+1delG rs1057517648
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.2344A>G (p.Ile782Val) rs142806416
NM_032043.2(BRIP1):c.2379+5G>C
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624
NM_032043.2(BRIP1):c.2497A>G (p.Ile833Val) rs199831248
NM_032043.2(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731
NM_032043.2(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079
NM_032043.2(BRIP1):c.266C>G (p.Ala89Gly)
NM_032043.2(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356
NM_032043.2(BRIP1):c.2854A>G (p.Ile952Val) rs200239986
NM_032043.2(BRIP1):c.2876C>G (p.Pro959Arg)
NM_032043.2(BRIP1):c.2902A>G (p.Lys968Glu) rs587782679
NM_032043.2(BRIP1):c.2914G>A (p.Val972Ile) rs786203224
NM_032043.2(BRIP1):c.2961A>C (p.Arg987Ser)
NM_032043.2(BRIP1):c.2990_2993delCAAA (p.Thr997Argfs) rs771028677
NM_032043.2(BRIP1):c.30del (p.Ile10Metfs)
NM_032043.2(BRIP1):c.3148A>C (p.Thr1050Pro)
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys) rs587780247
NM_032043.2(BRIP1):c.3178G>A (p.Val1060Ile) rs149016505
NM_032043.2(BRIP1):c.3191T>C (p.Phe1064Ser) rs916937983
NM_032043.2(BRIP1):c.3260dupA (p.Asn1087Lysfs) rs771654971
NM_032043.2(BRIP1):c.326A>G (p.Asn109Ser) rs587782734
NM_032043.2(BRIP1):c.3275C>A (p.Pro1092Gln) rs587780830
NM_032043.2(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923
NM_032043.2(BRIP1):c.3412G>A (p.Asp1138Asn) rs587780249
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573
NM_032043.2(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558
NM_032043.2(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893
NM_032043.2(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.2(BRIP1):c.3691A>G (p.Ile1231Val) rs876659290
NM_032043.2(BRIP1):c.3693A>G (p.Ile1231Met) rs1046992728
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032043.2(BRIP1):c.415T>G (p.Ser139Ala) rs202072866
NM_032043.2(BRIP1):c.439T>C (p.Tyr147His)
NM_032043.2(BRIP1):c.518G>A (p.Arg173His) rs761432927
NM_032043.2(BRIP1):c.588C>G (p.Asn196Lys)
NM_032043.2(BRIP1):c.629C>A (p.Pro210His) rs140097800
NM_032043.2(BRIP1):c.671G>C (p.Gly224Ala) rs990737815
NM_032043.2(BRIP1):c.720del (p.Lys240Asnfs)
NM_032043.2(BRIP1):c.728T>C (p.Ile243Thr) rs587781860
NM_032043.2(BRIP1):c.854A>G (p.His285Arg) rs141055990
NM_032043.2(BRIP1):c.887A>G (p.Glu296Gly) rs878855158
NM_032043.2(BRIP1):c.93+4_93+7delAGTA rs1224034842
NM_032043.2(BRIP1):c.991A>T (p.Met331Leu) rs1380876424

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