ClinVar Miner

List of variants studied for premature menopause

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 376
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HGVS dbSNP gnomAD frequency
NM_007068.4(DMC1):c.598A>G (p.Met200Val) rs2227914 0.03604
NM_002191.4(INHA):c.769G>A (p.Ala257Thr) rs12720062 0.01646
NM_178822.5(IGSF10):c.2237C>G (p.Pro746Arg) rs35667704 0.00655
NM_015512.5(DNAH1):c.2717A>G (p.Asp906Gly) rs61734644 0.00434
NM_004514.4(FOXK2):c.154C>T (p.Arg52Cys) rs146516291 0.00374
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_017696.3(MCM9):c.911A>G (p.Asn304Ser) rs78231991 0.00344
NM_144965.3(TTC16):c.356G>A (p.Arg119Gln) rs78007177 0.00344
NM_004514.4(FOXK2):c.1436C>T (p.Ala479Val) rs138822262 0.00260
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_203459.4(CAMSAP2):c.1868T>C (p.Met623Thr) rs34958390 0.00071
NM_203459.4(CAMSAP2):c.2510T>G (p.Ile837Arg) rs145940629 0.00065
NM_001371395.1(USP53):c.173G>A (p.Arg58Gln) rs201205533 0.00060
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro) rs142515048 0.00039
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_014675.5(CROCC):c.2780G>A (p.Arg927Gln) rs550187548 0.00033
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00025
NM_020765.3(UBR4):c.2012G>A (p.Arg671Gln) rs146261737 0.00025
NM_001371395.1(USP53):c.1253G>A (p.Arg418Gln) rs201142048 0.00022
NM_178822.5(IGSF10):c.5477G>A (p.Gly1826Asp) rs147801336 0.00017
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_003246.4(THBS1):c.1060C>T (p.Pro354Ser) rs142519614 0.00009
NM_153485.3(NUP155):c.157+156_157+167del rs1030414530 0.00009
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) rs1262402879 0.00008
NM_020401.4(NUP107):c.61C>T (p.Arg21Trp) rs139309724 0.00008
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_001036.6(RYR3):c.3092A>T (p.Lys1031Met) rs753104655 0.00006
NM_001371395.1(USP53):c.2975T>G (p.Phe992Cys) rs369618420 0.00006
NM_003579.4(RAD54L):c.1138C>T (p.Arg380Trp) rs150138364 0.00006
NM_178170.3(NEK8):c.1100G>C (p.Ser367Thr) rs374175041 0.00006
NM_178822.5(IGSF10):c.346A>G (p.Lys116Glu) rs370577610 0.00006
NM_207421.4(PADI6):c.519G>C (p.Glu173Asp) rs375717303 0.00006
NM_000103.4(CYP19A1):c.383A>G (p.His128Arg) rs375975652 0.00005
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750 0.00005
NM_002440.4(MSH4):c.2261C>T (p.Ser754Leu) rs377712900 0.00005
NM_003922.4(HERC1):c.4931T>C (p.Ile1644Thr) rs746301906 0.00005
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu) rs374537936 0.00004
NM_001012338.3(NTRK3):c.1495G>A (p.Asp499Asn) rs368708129 0.00004
NM_001395413.1(POR):c.1579C>T (p.Pro527Ser) rs375387233 0.00004
NM_014675.5(CROCC):c.3668G>A (p.Arg1223Gln) rs368610396 0.00004
NM_033656.4(BRWD1):c.656G>A (p.Arg219His) rs372595428 0.00004
NM_001048205.2(REC8):c.872C>T (p.Pro291Leu) rs914077012 0.00003
NM_001098537.3(PNPLA7):c.3683T>C (p.Ile1228Thr) rs368502649 0.00003
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter) rs200203460 0.00003
NM_001386188.2(CENPI):c.497G>A (p.Arg166His) rs137937705 0.00003
NM_005591.4(MRE11):c.305G>T (p.Gly102Val) rs199736271 0.00003
NM_005634.3(SOX3):c.1297G>T (p.Ala433Ser) rs1178579710 0.00003
NM_006988.5(ADAMTS1):c.1304C>A (p.Ser435Tyr) rs375553171 0.00003
NM_015512.5(DNAH1):c.4994T>C (p.Met1665Thr) rs376796307 0.00003
NM_015971.4(MRPS7):c.536G>A (p.Arg179His) rs752619610 0.00003
NM_058216.3(RAD51C):c.1090A>G (p.Ser364Gly) rs587782565 0.00003
NM_000064.4(C3):c.1835C>T (p.Thr612Met) rs201572752 0.00002
NM_000876.4(IGF2R):c.451C>T (p.His151Tyr) rs756631085 0.00002
NM_001134.3(AFP):c.1822G>A (p.Gly608Arg) rs146692547 0.00002
NM_001718.6(BMP6):c.409C>A (p.Leu137Met) rs747427445 0.00002
NM_003579.4(RAD54L):c.1900C>T (p.Arg634Cys) rs368491231 0.00002
NM_006559.3(KHDRBS1):c.1262C>T (p.Pro421Leu) rs750291697 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_014239.4(EIF2B2):c.818A>G (p.Lys273Arg) rs113994016 0.00002
NM_016539.4(SIRT6):c.362G>A (p.Arg121His) rs771714154 0.00002
NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp) rs267608239 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000603.5(NOS3):c.505G>A (p.Glu169Lys) rs765854160 0.00001
NM_001001711.3(DDI1):c.692_714dup (p.Gly239Ter) rs769976508 0.00001
NM_001080413.3(NOBOX):c.1440G>C (p.Lys480Asn) rs1006463439 0.00001
NM_001171251.3(HROB):c.421del (p.Glu141fs) rs762836620 0.00001
NM_001203.3(BMPR1B):c.605A>G (p.Lys202Arg) rs185062260 0.00001
NM_001282717.2(STAG3):c.2776C>T (p.Arg926Ter) rs764841861 0.00001
NM_001823.5(CKB):c.565G>C (p.Asp189His) rs1041105054 0.00001
NM_002253.4(KDR):c.724C>T (p.Leu242Phe) rs587778428 0.00001
NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys) rs747855434 0.00001
NM_003201.3(TFAM):c.694C>T (p.Arg232Cys) rs774009575 0.00001
NM_004991.4(MECOM):c.3019G>A (p.Gly1007Ser) rs767306816 0.00001
NM_007038.5(ADAMTS5):c.2176G>A (p.Gly726Arg) rs1986874557 0.00001
NM_015340.4(LARS2):c.326A>G (p.Asp109Gly) rs1698123763 0.00001
NM_021224.6(ZNF462):c.3515C>G (p.Pro1172Arg) rs1469441260 0.00001
NM_021240.4(DMRT3):c.1327C>T (p.Pro443Ser) rs764103256 0.00001
NM_024408.4(NOTCH2):c.5105G>A (p.Arg1702Gln) rs999822357 0.00001
NM_197941.4(ADAMTS6):c.2840G>A (p.Arg947Gln) rs1272612301 0.00001
GRCh37/hg19 10q11.22(chr10:47013328-47703946)x3
GRCh37/hg19 10q26.3(chr10:132547998-133057358)x3
GRCh37/hg19 11p11.12(chr11:50023832-50682188)x3
GRCh37/hg19 11p13(chr11:34642823-34796804)x3
GRCh37/hg19 11q22.3(chr11:107554267-108004957)x3
GRCh37/hg19 11q25(chr11:133433026-133716356)x3
GRCh37/hg19 11q25(chr11:134369417-134714635)x3
GRCh37/hg19 12p11.21(chr12:31157554-31391194)x3
GRCh37/hg19 12p13.31(chr12:7895024-8014573)x3
GRCh37/hg19 12q11(chr12:36702406-37120187)x3
GRCh37/hg19 12q12(chr12:38416139-38653605)x3
GRCh37/hg19 12q14.2(chr12:63946056-64116159)x3
GRCh37/hg19 12q23.1(chr12:100307887-100452062)x3
GRCh37/hg19 12q23.3(chr12:104908843-105074764)x3
GRCh37/hg19 12q24.11(chr12:109547668-109661414)x3
GRCh37/hg19 12q24.31(chr12:125260645-125321461)x3
GRCh37/hg19 12q24.33(chr12:129806980-130480186)x3
GRCh37/hg19 13q12.12(chr13:23368834-24815661)x3
GRCh37/hg19 13q12.12(chr13:24936847-25010174)x3
GRCh37/hg19 13q21.32(chr13:66172692-66345298)x3
GRCh37/hg19 13q21.32(chr13:68194708-68272196)x3
GRCh37/hg19 13q31.3(chr13:90387808-90490883)x3
GRCh37/hg19 13q32.1(chr13:95937149-96030662)x3
GRCh37/hg19 13q34(chr13:111676920-111746149)x3
GRCh37/hg19 14q11.2(chr14:20213937-20420338)x3
GRCh37/hg19 14q21.3(chr14:49463484-49657524)x3
GRCh37/hg19 14q32.33(chr14:106124720-106949307)x3
GRCh37/hg19 15q11.2(chr15:22076598-22219100)x3
GRCh37/hg19 15q13.1-13.2(chr15:28962131-30366247)x1
GRCh37/hg19 15q13.3(chr15:32049125-32418038)x3
GRCh37/hg19 15q14(chr15:34800595-35026251)x3
GRCh37/hg19 15q25.2(chr15:82429837-82691453)x3
GRCh37/hg19 15q25.2(chr15:83213963-84811815)x1
GRCh37/hg19 15q26.3(chr15:100988564-101401627)x3
GRCh37/hg19 15q26.3(chr15:102251993-102461162)x3
GRCh37/hg19 16p11.2(chr16:29779861-29980031)x3
GRCh37/hg19 16p13.12(chr16:13889247-14163635)x3
GRCh37/hg19 16p13.2(chr16:9194963-9356311)x3
GRCh37/hg19 16q23.1(chr16:75539436-75577559)x3
GRCh37/hg19 17p11.2(chr17:21539613-21874036)x1
GRCh37/hg19 17p12(chr17:14105874-15383769)x1
GRCh37/hg19 17q12(chr17:34815551-36220373)x3
GRCh37/hg19 17q21.31(chr17:44249096-44293020)x3
GRCh37/hg19 17q25.3(chr17:77365534-77394037)x3
GRCh37/hg19 18p11.21(chr18:14774429-15375878)x3
GRCh37/hg19 18p11.22(chr18:9450518-9547947)x3
GRCh37/hg19 18q22.1(chr18:65274155-65597947)x3
GRCh37/hg19 19p12(chr19:20835290-20987550)x3
GRCh37/hg19 19q13.11(chr19:34480641-34687560)x3
GRCh37/hg19 19q13.2-13.31(chr19:43372386-43539189)x1
GRCh37/hg19 19q13.33(chr19:48085766-48160500)x3
GRCh37/hg19 19q13.41(chr19:52272131-52588718)x3
GRCh37/hg19 1p11.2(chr1:121171208-121289118)x3
GRCh37/hg19 1p21.1(chr1:103908591-104012569)x3
GRCh37/hg19 1p21.1(chr1:104103057-104357400)x3
GRCh37/hg19 1p32.1(chr1:59891821-61162222)x3
GRCh37/hg19 1p34.3(chr1:35570364-35656664)x3
GRCh37/hg19 1q21.1(chr1:145020771-145640129)x3
GRCh37/hg19 1q25.1(chr1:173697478-174010664)x3
GRCh37/hg19 1q31.3(chr1:196794652-196882038)x3
GRCh37/hg19 1q43(chr1:237083719-237586469)x3
GRCh37/hg19 20p11.21(chr20:23619740-23727830)x3
GRCh37/hg19 21q21.1-21.2(chr21:19888645-25594975)x3
GRCh37/hg19 21q21.3(chr21:27502468-27849346)x3
GRCh37/hg19 22q11.21(chr22:18892575-19026403)x3
GRCh37/hg19 22q11.21(chr22:20220764-21024880)x3
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1
GRCh37/hg19 22q11.22(chr22:22312879-22556358)x3
GRCh37/hg19 22q11.23-12.1(chr22:25661725-25910879)x3
GRCh37/hg19 22q12.3-13.1(chr22:37485062-37618530)x3
GRCh37/hg19 2p11.2(chr2:90010895-90240473)x3
GRCh37/hg19 2p16.3(chr2:51572556-51729681)x3
GRCh37/hg19 2q11.1(chr2:95444917-95977790)x3
GRCh37/hg19 2q14.3(chr2:124069523-124251487)x3
GRCh37/hg19 2q14.3(chr2:128368235-128405920)x3
GRCh37/hg19 2q21.1(chr2:130982377-131096727)x3
GRCh37/hg19 2q21.2(chr2:133584471-133902333)x3
GRCh37/hg19 2q31.1(chr2:170051329-170213930)x3
GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3
GRCh37/hg19 2q35(chr2:216629374-217251859)x3
GRCh37/hg19 3p22.3(chr3:35832877-35925872)x3
GRCh37/hg19 3p26.1(chr3:6224872-6598777)x3
GRCh37/hg19 3p26.3(chr3:66894-2552565)x3
GRCh37/hg19 3q21.1(chr3:122964492-123080578)x3
GRCh37/hg19 3q25.1(chr3:151514590-151574286)x1
GRCh37/hg19 3q26.31(chr3:173239453-173289281)x3
GRCh37/hg19 3q27.1(chr3:182896411-183198268)x3
GRCh37/hg19 4p15.31(chr4:18303100-18412600)x3
GRCh37/hg19 4p16.1(chr4:10188326-11112475)x3
GRCh37/hg19 4q12(chr4:57759221-57795328)x3
GRCh37/hg19 4q21.21(chr4:80179372-80566060)x3
GRCh37/hg19 4q28.1(chr4:127037075-127760876)x3
GRCh37/hg19 4q28.3(chr4:131965131-132354287)x3
GRCh37/hg19 4q31.3(chr4:154316483-154325120)
GRCh37/hg19 4q35.2(chr4:188498590-189313688)x3
GRCh37/hg19 5p13.2(chr5:34003361-34663915)x3
GRCh37/hg19 5p15.31-15.2(chr5:9529809-9990381)x3
GRCh37/hg19 5q23.3(chr5:129648250-130330467)x3
GRCh37/hg19 6q16.1(chr6:95354276-95676106)x3
GRCh37/hg19 6q23.3(chr6:137941485-138002056)x3
GRCh37/hg19 6q26(chr6:161362678-161469774)x3
GRCh37/hg19 6q27(chr6:168352586-168597242)x3
GRCh37/hg19 6q27(chr6:170713690-170890384)x3
GRCh37/hg19 7p11.2(chr7:57481104-57621951)x3
GRCh37/hg19 7p14.1(chr7:37741319-37885121)x3
GRCh37/hg19 7p14.3(chr7:29209361-29535998)x3
GRCh37/hg19 7p15.3(chr7:21483605-21589243)x3
GRCh37/hg19 7p21.1(chr7:17584021-17640215)x3
GRCh37/hg19 7p21.3(chr7:13193276-13244473)x3
GRCh37/hg19 7p22.3(chr7:132529-162448)x3
GRCh37/hg19 7p22.3(chr7:37445-68920)x3
GRCh37/hg19 7q11.21(chr7:62043624-62336389)x3
GRCh37/hg19 7q11.21(chr7:64727862-64964510)x1
GRCh37/hg19 7q11.23(chr7:76289033-76476970)x3
GRCh37/hg19 7q11.23(chr7:76432653-76476970)x3
GRCh37/hg19 7q22.1(chr7:100968363-101127455)x3
GRCh37/hg19 7q34(chr7:140070378-140129626)x3
GRCh37/hg19 8p23.1(chr8:11745820-11860259)x3
GRCh37/hg19 8p23.1(chr8:8131816-12249050)x1
GRCh37/hg19 8q22.3(chr8:104996667-105229526)x3
GRCh37/hg19 8q24.21(chr8:130866512-131107094)x3
GRCh37/hg19 9p24.2-24.1(chr9:4287179-5579213)x3
GRCh37/hg19 9p24.3(chr9:244457-262191)x3
GRCh37/hg19 9p24.3(chr9:46587-262191)x3
GRCh37/hg19 9q31.1(chr9:104819532-104883836)x3
GRCh37/hg19 9q34.3(chr9:138149166-138237120)x3
GRCh37/hg19 Xp11.23(chrX:47911871-47970727)x1
GRCh37/hg19 Xp11.4(chrX:38490844-38624791)x3
GRCh37/hg19 Xp21.2-21.1(chrX:31453403-31560484)x3
GRCh37/hg19 Xp22.11(chrX:22818110-22862852)x3
GRCh37/hg19 Xp22.31(chrX:6497085-6596639)x3
GRCh37/hg19 Xp22.31(chrX:6516735-8135053)x3
GRCh37/hg19 Xq12(chrX:66905875-67475065)x3
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1
GRCh37/hg19 Xq26.3(chrX:134292131-134852104)x3
GRCh38/hg38 10p15.2(chr10:3105924-3160299)x1
GRCh38/hg38 10q11.22(chr10:46172088-46275517)x1
GRCh38/hg38 10q21.3(chr10:66318723-66354723)x1
GRCh38/hg38 10q23.33(chr10:94739953-94797578)x1
GRCh38/hg38 10q25.1(chr10:105858290-105922247)x1
GRCh38/hg38 10q26.3(chr10:133438843-133565298)x3
GRCh38/hg38 10q26.3(chr10:133443259-133566207)x1
GRCh38/hg38 11p11.2-11.12(chr11:48497341-48921229)x1
GRCh38/hg38 11q11(chr11:55354862-55683570)x0
GRCh38/hg38 11q12.1(chr11:56357174-56358386)x1
GRCh38/hg38 11q25(chr11:134495568-134569379)x1
GRCh38/hg38 12p13.31(chr12:7851162-7970710)x1
GRCh38/hg38 12q14.2(chr12:63552276-63722379)x1
GRCh38/hg38 12q21.1(chr12:72849677-72970178)x1
GRCh38/hg38 13q14.3(chr13:50620269-50824330)x1
GRCh38/hg38 13q32.1(chr13:96396846-96651749)x1
GRCh38/hg38 13q33.3(chr13:107505082-107617448)x1
GRCh38/hg38 14q21.2(chr14:43781886-43815123)x1
GRCh38/hg38 14q21.2(chr14:46083651-46210078)x1
GRCh38/hg38 15q11.2(chr15:24112068-24227134)x1
GRCh38/hg38 15q21.3(chr15:57374829-57442092)x1
GRCh38/hg38 15q26.3(chr15:101138520-101293161)x1
GRCh38/hg38 16p13.12(chr16:12595039-12636793)x1
GRCh38/hg38 16q23.1(chr16:78530544-78735891)x1
GRCh38/hg38 16q23.2(chr16:81216324-81270286)x1
GRCh38/hg38 17p13.3(chr17:162094-264878)x1
GRCh38/hg38 18p11.32(chr18:1715757-1833681)x1
GRCh38/hg38 18p11.32(chr18:1898847-1963416)x1
GRCh38/hg38 18q22.1(chr18:66419523-66667666)x1
GRCh38/hg38 18q22.3(chr18:71413553-71562681)x1
GRCh38/hg38 18q23(chr18:77827254-77944154)x1
GRCh38/hg38 19p13.3(chr19:3804703-3835179)x1
GRCh38/hg38 19q13.33(chr19:47559877-47778812)x1
GRCh38/hg38 1p13.2(chr1:114073607-114177397)x1
GRCh38/hg38 1p21.1(chr1:102207943-102378169)x1
GRCh38/hg38 1p31.3(chr1:61747150-61956770)x1
GRCh38/hg38 1p33(chr1:48634520-49615901)x1
GRCh38/hg38 1q31.3(chr1:196743467-196912909)x1
GRCh38/hg38 1q43(chr1:240208521-240398427)x1
GRCh38/hg38 1q43(chr1:242366167-242391262)x1
GRCh38/hg38 20p12.1(chr20:14801038-14842826)x1
GRCh38/hg38 22q11.23-12.1(chr22:25336730-25514912)x1
GRCh38/hg38 22q13.2(chr22:42726714-43104206)x1
GRCh38/hg38 2p13.1(chr2:73601366-73673202)x1
GRCh38/hg38 2p22.3(chr2:35173390-35441810)x1
GRCh38/hg38 2p22.3(chr2:35594620-35862576)x1
GRCh38/hg38 2q14.3(chr2:123484951-123548571)x1
GRCh38/hg38 2q31.2(chr2:178207099-178324259)x1
GRCh38/hg38 2q37.3(chr2:241975583-242092368)x0
GRCh38/hg38 3p12.1(chr3:85427867-85558987)x1
GRCh38/hg38 3p12.3(chr3:75370585-75587298)x1
GRCh38/hg38 3p14.2(chr3:60103588-60251982)x1
GRCh38/hg38 3p24.2(chr3:25979874-26080352)x1
GRCh38/hg38 3q13.31(chr3:113857357-113901499)x1
GRCh38/hg38 4q13.2(chr4:68626601-68646936)x1
GRCh38/hg38 4q34.2(chr4:176084892-176188175)x1
GRCh38/hg38 4q35.2(chr4:187167128-187348684)x1
GRCh38/hg38 5p13.3(chr5:32107275-32159411)x3
GRCh38/hg38 5q13.2(chr5:69424592-69579800)x1
GRCh38/hg38 5q14.3(chr5:85091086-85248046)x1
GRCh38/hg38 5q15(chr5:97188217-97327643)x1
GRCh38/hg38 5q15(chr5:97712762-97763616)x1
GRCh38/hg38 5q22.3(chr5:114167726-114281297)x1
GRCh38/hg38 6q13(chr6:72988135-73225292)x1
GRCh38/hg38 6q14.1(chr6:78263214-78319651)x0
GRCh38/hg38 6q14.1(chr6:78319932-78376369)x0
GRCh38/hg38 6q26(chr6:161672108-162038539)x1
GRCh38/hg38 7p14.3(chr7:33600258-33690764)x1
GRCh38/hg38 7p22.3(chr7:2263321-2337697)x1
GRCh38/hg38 7q11.23(chr7:76659716-76927895)x1
GRCh38/hg38 7q31.1(chr7:110142444-110346976)x1
GRCh38/hg38 7q31.1(chr7:111239195-111419830)x1
GRCh38/hg38 8p22(chr8:16081832-16163959)x1
GRCh38/hg38 8p23.1(chr8:8467939-8587382)x1
GRCh38/hg38 8q23.3(chr8:112606184-112706952)x1
GRCh38/hg38 8q24.23(chr8:136675987-136845084)x1
GRCh38/hg38 9p21.1(chr9:28195208-28336187)x1
GRCh38/hg38 9p22.1(chr9:19678271-19779174)x1
GRCh38/hg38 9p23(chr9:11660141-11890047)x1
GRCh38/hg38 9q22.31(chr9:92301666-92417555)x1
GRCh38/hg38 9q31.1(chr9:101832517-102089791)x1
GRCh38/hg38 9q31.1(chr9:103003183-103053220)x1
GRCh38/hg38 9q31.3(chr9:111574733-111624855)x1
GRCh38/hg38 9q33.1(chr9:116522866-117041655)x1
GRCh38/hg38 Xp22.11(chrX:22939885-23001905)x1
GRCh38/hg38 Xp22.33(chrX:2673846-2884527)x1
NC_000002.12:g.44277853_44353364del
NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly) rs1428700861
NM_000136.3(FANCC):c.1027T>G (p.Tyr343Asp) rs990172603
NM_000287.4(PEX6):c.371T>C (p.Leu124Pro) rs1770427781
NM_000603.5(NOS3):c.172C>T (p.Pro58Ser) rs752309888
NM_000946.3(PRIM1):c.873G>T (p.Trp291Cys) rs1953872046
NM_000949.7(PRLR):c.851T>G (p.Leu284Trp) rs748942718
NM_001004311.3(FIGLA):c.*5_*7delinsAGG rs386647171
NM_001036.6(RYR3):c.2567C>G (p.Thr856Ser) rs1189945732
NM_001036.6(RYR3):c.6604G>A (p.Ala2202Thr) rs2066768594
NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg) rs138974583
NM_001048205.2(REC8):c.1035_1036dup (p.Ala346fs) rs2138794849
NM_001048205.2(REC8):c.1057A>C (p.Thr353Pro) rs370763234
NM_001048205.2(REC8):c.624+1G>A rs2139132972
NM_001080435.3(WHAMM):c.734C>T (p.Pro245Leu) rs2050659596
NM_001098426.2(SMARCD2):c.93del (p.Ala32fs) rs1379892630
NM_001171613.2(PREPL):c.614_688delinsTTTTA (p.Lys205fs) rs1558502635
NM_001184785.2(PARD3):c.3181C>G (p.Gln1061Glu) rs910077515
NM_001258392.3(CLPB):c.1167+5G>A
NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter) rs774733445
NM_001282717.2(STAG3):c.1942G>A (p.Ala648Thr) rs2117315224
NM_001282717.2(STAG3):c.1953_1955del (p.Leu652del) rs2117315457
NM_001297719.2(BMAL1):c.18G>C (p.Met6Ile) rs1942174898
NM_001317056.2(ATG9B):c.1480G>T (p.Glu494Ter) rs996929151
NM_001321324.2(MOV10):c.2831A>G (p.Tyr944Cys) rs1674524213
NM_001349232.2(ATG7):c.1261C>T (p.Leu421Phe) rs1954829367
NM_001379180.1(ESRRB):c.66G>A (p.Met22Ile) rs370031835
NM_001438.4(ESRRG):c.1067A>G (p.Tyr356Cys) rs1430017283
NM_001438.4(ESRRG):c.56+15867GT[3] rs1575576173
NM_001717.4(BNC1):c.2273C>T (p.Thr758Ile) rs760137127
NM_001983.4(ERCC1):c.321+61_525+132del
NM_002025.4(AFF2):c.3203C>G (p.Ser1068Trp) rs188208167
NM_002037.5(FYN):c.206C>G (p.Ser69Cys) rs1800846906
NM_002303.6(LEPR):c.709C>T (p.Pro237Ser) rs1656071790
NM_002467.6(MYC):c.478G>A (p.Val160Ile) rs1813651626
NM_002485.5(NBN):c.871C>T (p.Gln291Ter) rs1554563822
NM_002693.3(POLG):c.1685G>A (p.Arg562Gln) rs781168350
NM_002742.3(PRKD1):c.646C>G (p.Arg216Gly) rs145651161
NM_003399.6(XPNPEP2):c.1081G>A (p.Glu361Lys) rs1926453223
NM_003503.4(CDC7):c.683_689del (p.Lys227_Ser228insTer) rs780309556
NM_003579.4(RAD54L):c.1883A>C (p.Glu628Ala) rs1660658865
NM_003722.5(TP63):c.1780C>T (p.Arg594Ter) rs900140738
NM_003722.5(TP63):c.1794G>A (p.Trp598Ter) rs1560311010
NM_003722.5(TP63):c.1939C>T (p.Arg647Cys)
NM_003722.5(TP63):c.290G>C (p.Arg97Pro)
NM_003722.5(TP63):c.53A>G (p.Tyr18Cys)
NM_003922.4(HERC1):c.8236A>G (p.Thr2746Ala) rs769159645
NM_004972.4(JAK2):c.436G>A (p.Asp146Asn) rs1299892808
NM_005260.7(GDF9):c.-616_-142dup rs1581252159
NM_005269.3(GLI1):c.2227T>C (p.Tyr743His) rs1871871826
NM_005732.4(RAD50):c.3907A>G (p.Ser1303Gly) rs876659120
NM_005862.3(STAG1):c.634G>A (p.Asp212Asn) rs1559855546
NM_007371.4(BRD3):c.1149G>A (p.Met383Ile) rs1830145204
NM_013372.7(GREM1):c.466C>T (p.Leu156Phe) rs1567113298
NM_014239.4(EIF2B2):c.514C>T (p.Arg172Ter) rs758398310
NM_015104.3(ATG2A):c.1954C>A (p.Leu652Met) rs1944696380
NM_015971.4(MRPS7):c.373A>T (p.Lys125Ter)
NM_018984.4(SSH1):c.151_175dup (p.Gln59fs) rs1566003171
NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln) rs774237195
NM_020207.7(ERCC6L2):c.2156del (p.Gly719fs) rs902795242
NM_020311.3(ACKR3):c.1003T>G (p.Ser335Ala) rs1691535270
NM_020547.3(AMHR2):c.1280T>G (p.Leu427Trp) rs747203537
NM_024426.6(WT1):c.1021A>G (p.Ser341Gly) rs1852103616
NM_052963.3(TOP1MT):c.1115G>C (p.Arg372Pro) rs778858235
NM_058241.3(CCNT2):c.430+1G>C rs1559101733
NM_138815.4(DPPA2):c.833T>C (p.Leu278Ser) rs1353278679
NM_152524.6(SGO2):c.1453_1454del (p.Glu485fs) rs1057519602
NM_152756.5(RICTOR):c.1325A>G (p.His442Arg) rs1329438711
NM_178822.5(IGSF10):c.7849del (p.Ala2617fs) rs1577654964
NM_205860.3(NR5A2):c.681T>G (p.His227Gln) rs749896579
NM_207189.4(BRDT):c.1538del (p.Asp513fs) rs1188709614
Single allele
t(3;10)(q22;q25.3)

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