ClinVar Miner

List of intergenic variants reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 597
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HGVS dbSNP gnomAD frequency
1 bp del G 7
15q11.2-12duplication
15q13.3duplication
15q25.3duplication
17q21.31 Microdeletion
1q42.2deletion
22q11.21deletion
2q13 deletion
2q37.3deletion
45;XY;t(11;18;13;21;17)(p11.2;p11.2;q33;q11;q11)dn
46,XY,der(21)t(9;21)(p11;p12)
46;X;inv(X)(p11.4q24)dn
46;X;t(X;17)(q22;p13.3)dn
46;X;t(X;19)(p22.1;p13.3)dn
46;X;t(X;3)(p21.3;p25.1)dn
46;X;t(X;5)(p11.23;q35)dn
46;X;t(X;5)(q24;q13)dn
46;X;t(X;8)(p22;p21)dn
46;XX;ins(2;9)(q24.3;p22.1p24.3)dn
46;XX;ins(5;6)(p13;p24p25)dn
46;XX;inv(2)(p23q31)dn
46;XX;inv(2)(p23q31.3)
46;XX;inv(5)(q14q35)dn
46;XX;inv(7)(p13q11.23)
46;XX;inv(7)(q11.23q36.3)dn
46;XX;t(10;15)(q25.2;q11.2)
46;XX;t(11;12)(p12;p12.1)dn
46;XX;t(19;21)(q13.3;q22.3)dn
46;XX;t(2;10)(p23;q22.1)dn
46;XX;t(2;10)(q22;22.3)dn
46;XX;t(2;11)(q11.2;p13)dn
46;XX;t(3;12)(q13.2;q14)dn
46;XX;t(3;14)(q25;q11.2)dn
46;XX;t(7;13)(p13;q34)dn
46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn
46;XY;ins(16;2)(q22.1;p16.2p21)pat
46;XY;inv(1)(p11q21)dn
46;XY;inv(1)(p22.3p34.1)dn
46;XY;inv(10)(q11.2q24)dn
46;XY;inv(12)(p12.1q21.2)dn
46;XY;inv(3)(p13q21)dn
46;XY;inv(6)(p22q13)dn
46;XY;inv(6)(q22.2q27)dn
46;XY;inv(9)(q22.3q34.11)dn
46;XY;t(11;19)(p11.2;p13.3)dn
46;XY;t(15;17)(q24;q21.3)dn
46;XY;t(1;14)(p36.22;q22.1)
46;XY;t(1;15)(p22.3;q15)
46;XY;t(1;2)(p34.2;q35)dn
46;XY;t(1;5)(p35.3;q31.3)dn
46;XY;t(2;10)(p25;q26)dn
46;XY;t(2;12)(p25.1;p11.2)dn
46;XY;t(2;17)(p25;q23)dn
46;XY;t(2;22)(q23;q13)dn
46;XY;t(2;6)(q33;q21)dn
46;XY;t(3;10)(p26.3;q26.3)dn
46;XY;t(3;18)(q13.31;q22.1)dn
46;XY;t(3;18)(q13.3;q21.3)dn
46;XY;t(3;5)(q24;p15.3)dn
46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn
46;XY;t(5;15)(q11.2;q24)
46;XY;t(5;15)(q13.1;q13)
46;XY;t(5;19)(q33;p13.1)dn
46;XY;t(5;7)(q35;q33)dn
46;XY;t(6;11)(p12.3;p14.2)dn
46;XY;t(6;12)(q14;q24);20p+dn
46;XY;t(6;8)(q13;q13)dn
46;XY;t(7;13)(p15.3;q14.1)dn
46;XY;t(7;19)(q32;q13.1)dn
46;XY;t(7;8)(p12.3;p11.2)dn
46;XY;t(8;10)(q13;p13)dn
46;XY;t(8;9)(q13;p22)dn
46;XY;t(9;11)(q34;p11.2)dn
46;XY;t(9;15)(q13;q11.2)dn
46;XY;t(9;16)(p24;q22)dn
46;XYt(2;5)(q22;q22)dn
7q31.32deletion
7q32.3duplication
7q35 duplication
9p24.1deletion
FGFR2-CLIP1 fusion
GNPTAB:c.1895C>G
GRCh37/hg19 1q31.1(chr1:188620903-188928487)x1
GRCh37/hg19 1q31.1-31.2(chr1:190622633-191184941)x1
GRCh37/hg19 22p13(chr22:135350-150557)x1
GRCh37/hg19 22p13-11.2(chr22:44166-11675280)x1
GRCh37/hg19 9q12(chr9:55958158-55978098)x1
GRCh37/hg19 Xp22.33(chrX:168546-1001584)
GRCh37/hg19 Xp22.33(chrX:168546-1234634)x1
GRCh37/hg19 Xp22.33(chrX:168546-1358900)x1
GRCh37/hg19 Xp22.33(chrX:168546-1359249)
GRCh37/hg19 Xp22.33(chrX:168546-1411818)x1
GRCh37/hg19 Xp22.33(chrX:168546-1616945)x1
GRCh37/hg19 Xp22.33(chrX:168546-1734397)x1
GRCh37/hg19 Xp22.33(chrX:168546-1922907)x0
GRCh37/hg19 Xp22.33(chrX:168546-1998539)x1
GRCh37/hg19 Xp22.33(chrX:168546-781139)x1
GRCh37/hg19 Xp22.33(chrX:168547-1536716)x1
GRCh37/hg19 Xp22.33(chrX:168547-2057937)x1
GRCh37/hg19 Xp22.33(chrX:201704-1023532)
GRCh37/hg19 Xp22.33(chrX:217329-1234634)x1
GRCh37/hg19 Xp22.33(chrX:310147-1734397)x1
GRCh37/hg19 Xp22.33(chrX:356281-2382269)x1
GRCh37/hg19 Xp22.33(chrX:372029-1262195)
GRCh37/hg19 Xp22.33(chrX:416347-1993495)x1
GRCh37/hg19 Xp22.33(chrX:416347-756010)x1
GRCh37/hg19 Xp22.33(chrX:450823-862460)x1
GRCh37/hg19 Xp22.33(chrX:450941-1651464)x1
GRCh37/hg19 Xp22.33(chrX:450941-827222)x1
GRCh37/hg19 Xp22.33(chrX:480574-837407)
GRCh37/hg19 Xp22.33(chrX:482532-1460944)x1
GRCh37/hg19 Xp22.33(chrX:502307-1234634)x1
GRCh37/hg19 Xp22.33(chrX:502858-837407)x1
GRCh37/hg19 Xp22.33(chrX:513354-640818)x1
GRCh37/hg19 Xp22.33(chrX:513354-650520)x1
GRCh37/hg19 Xp22.33(chrX:517225-839488)x1
GRCh37/hg19 Xp22.33(chrX:534390-935361)x1
GRCh37/hg19 Xp22.33(chrX:535743-1712586)x1
GRCh37/hg19 Xp22.33(chrX:546305-650199)x1
GRCh37/hg19 Xp22.33(chrX:570979-1358900)
GRCh37/hg19 Xp22.33(chrX:571286-920674)x1
GRCh37/hg19 Xp22.33(chrX:585079-619564)x3
GRCh37/hg19 Xp22.33(chrX:602793-629993)x1
GRCh37/hg19 Xp22.33(chrX:61091-787353)
GRCh37/hg19 Xp22.33(chrX:614727-636490)x0
GRCh37/hg19 Xp22.33(chrX:663566-943953)x1
GRCh37/hg19 Xp22.33(chrX:70297-1015886)x1
GRCh37/hg19 Xp22.33(chrX:70297-643638)x0
GRCh37/hg19 Xq25(chrX:123244958-123406369)x3
GRCh37/hg19 Yp11.32(chrY:168546-1605584)x0
GRCh37/hg19 Yp11.32(chrY:168546-2058729)x0
GRCh37/hg19 Yp11.32(chrY:20297-593638)x0
GRCh37/hg19 Yp11.32(chrY:20297-716832)x1
GRCh37/hg19 Yp11.32-11.31(chrY:20297-2640984)
GRCh37/hg19 Yq11.23-12(chrY:28792268-58883690)x0
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3
GRCh38/hg38 16p11.2(chr16:29662633-30179247)x3
GRCh38/hg38 4q34.1(chr4:173734069-173820899)x3
GRCh38/hg38 Xp22.33(chrX:27245-270490)x1
MN1-ETV6 fusion
NCBI36/hg18 10p15.3-11.21(chr10:62842-35709057)x3
NCBI36/hg18 10p15.3-13(chr10:106418-15455341)x3
NCBI36/hg18 10p15.3-15.1(chr10:126478-4617886)x1
NCBI36/hg18 10p15.3-15.1(chr10:62842-5265989)x1
NCBI36/hg18 10p15.3-15.2(chr10:126478-3583472)x1
NCBI36/hg18 10q11.21-21.1(chr10:43291461-55325153)x3
NCBI36/hg18 10q22.3-26.3(chr10:81675342-89355409)x1
NCBI36/hg18 10q24.31-24.32(chr10:102959088-103392979)x3
NCBI36/hg18 10q25.1-26.13(chr10:111439438-126407968)x3
NCBI36/hg18 10q25.3-26.3(chr10:118134438-135285668)x3
NCBI36/hg18 10q26.11-26.3(chr10:120510932-131289540)x3
NCBI36/hg18 10q26.3(chr10:131348035-135284168)x1
NCBI36/hg18 11p11.2(chr11:44170933-44262321)x1
NCBI36/hg18 11p14.3-14.1(chr11:23484198-27857928)x1
NCBI36/hg18 11p15.4-15.2(chr11:10129497-14025533)x3
NCBI36/hg18 11p15.5-15.4(chr11:128203-5416733)x3
NCBI36/hg18 11q13.3-13.4(chr11:70530702-70972913)x3
NCBI36/hg18 11q13.3-13.4(chr11:70693226-72510847)x1
NCBI36/hg18 11q14.2-23.2(chr11:87819065-113972549)x1
NCBI36/hg18 11q22.3-23.2(chr11:105999194-113367377)x3
NCBI36/hg18 11q23.3-25(chr11:118591021-134450446)x3
NCBI36/hg18 11q24.1-25(chr11:121216002-134450446)x1
NCBI36/hg18 11q24.1-25(chr11:123365495-134373617)x1
NCBI36/hg18 11q24.2-24.3(chr11:125285520-128447541)x1
NCBI36/hg18 12p12.1-11.23(chr12:22220384-27436893)x3
NCBI36/hg18 12p13.2-13.1(chr12:11147715-14258330)x1
NCBI36/hg18 12p13.33-12.3(chr12:618913-18592030)x3
NCBI36/hg18 12p13.33-13.2(chr12:74879-11113226)x3
NCBI36/hg18 12p13.33-13.31(chr12:1717299-9579142)x3
NCBI36/hg18 12p13.33-q11(chr12:18636-34652244)x3
NCBI36/hg18 12q12-13.11(chr12:42214886-46370676)x1
NCBI36/hg18 13q12.11(chr13:19231330-21563578)x1
NCBI36/hg18 13q21.33-34(chr13:67522431-114110750)x3
NCBI36/hg18 13q31.1-34(chr13:83517042-114110750)x3
NCBI36/hg18 13q33.2-34(chr13:103767690-114123757)x1
NCBI36/hg18 13q34(chr13:109728207-114123757)x1
NCBI36/hg18 14q12-13.1(chr14:26269654-32938435)x3
NCBI36/hg18 14q13.1-22.1(chr14:33147820-48397485)x1
NCBI36/hg18 14q23.1(chr14:58143026-61052791)x1
NCBI36/hg18 14q32.12-32.33(chr14:92432614-106358753)x3
NCBI36/hg18 15p12-q13.1(chr15:6207329-26103882)x1
NCBI36/hg18 15q11.1-13.1(chr15:18323354-26886043)x3
NCBI36/hg18 15q11.1-13.1(chr15:18323354-26895486)x3
NCBI36/hg18 15q11.1-13.2(chr15:18323354-28207176)x3
NCBI36/hg18 15q11.1-13.3(chr15:18323354-30219409)x3
NCBI36/hg18 15q11.1-13.3(chr15:18323354-30701482)x3
NCBI36/hg18 15q11.1-13.3(chr15:18323354-30755770)x3
NCBI36/hg18 15q11.1-26.3(chr15:18323354-100323985)x3
NCBI36/hg18 15q11.2-12(chr15:21258545-24878968)x1
NCBI36/hg18 15q11.2-13.1(chr15:19933868-26739109)x3
NCBI36/hg18 15q11.2-13.1(chr15:20203424-26895486)x3
NCBI36/hg18 15q11.2-13.1(chr15:20316992-26193908)x3
NCBI36/hg18 15q11.2-13.1(chr15:21227840-26198813)x1
NCBI36/hg18 15q11.2-13.1(chr15:21227840-26711132)x1
NCBI36/hg18 15q11.2-26.3(chr15:21173967-26198813)x1
NCBI36/hg18 15q13.1-13.3(chr15:26996912-30419006)x1
NCBI36/hg18 15q13.1-13.3(chr15:26996912-30420592)x1
NCBI36/hg18 15q13.1-13.3(chr15:26996912-30494175)x1
NCBI36/hg18 15q13.1-26.3(chr15:26996912-30494175)x1
NCBI36/hg18 15q13.2-13.3(chr15:28742018-30231187)x1
NCBI36/hg18 15q13.2-13.3(chr15:28742018-30302249)x1
NCBI36/hg18 15q13.2-13.3(chr15:28742018-30326962)x1
NCBI36/hg18 15q13.3(chr15:29852369-30302249)x1
NCBI36/hg18 15q13.3-14(chr15:29328821-32021037)x1
NCBI36/hg18 15q24.1-24.2(chr15:72206704-73807023)x1
NCBI36/hg18 15q24.2(chr15:73328920-73807023)x1
NCBI36/hg18 15q24.3-26.2(chr15:75168372-95913943)x3
NCBI36/hg18 15q26.1-26.3(chr15:87618505-100200996)x3
NCBI36/hg18 15q26.1-26.3(chr15:87634395-100234667)x3
NCBI36/hg18 15q26.2-26.3(chr15:92859792-100323985)x1
NCBI36/hg18 15q26.3(chr15:96445853-100200996)x1
NCBI36/hg18 15q26.3(chr15:96503246-97721294)x3
NCBI36/hg18 15q26.3(chr15:97745418-100217337)x1
NCBI36/hg18 16p11.2(chr16:28311678-30098094)x1
NCBI36/hg18 16p11.2(chr16:28411325-30098094)x1
NCBI36/hg18 16p11.2(chr16:28751255-28952351)x1
NCBI36/hg18 16p11.2(chr16:29355343-30197153)x3
NCBI36/hg18 16p11.2(chr16:29500252-30098094)x1
NCBI36/hg18 16p11.2(chr16:29500252-30098094)x3
NCBI36/hg18 16p11.2(chr16:29528159-30098094)x3
NCBI36/hg18 16p11.2(chr16:29564158-30098094)x1
NCBI36/hg18 16p11.2(chr16:29564158-30098094)x3
NCBI36/hg18 16p11.2(chr16:29564158-30104967)x1
NCBI36/hg18 16p11.2(chr16:29564158-30158161)x3
NCBI36/hg18 16p11.2-q24.3(chr16:31893599-33705883)x3
NCBI36/hg18 16p12.1-11.2(chr16:24314242-33760946)x3
NCBI36/hg18 16p13.11(chr16:15414665-16120173)x1
NCBI36/hg18 16p13.11(chr16:15414665-16270204)x1
NCBI36/hg18 16p13.11(chr16:15414665-16308334)x1
NCBI36/hg18 16p13.11(chr16:15414665-16345725)x1
NCBI36/hg18 16p13.11(chr16:15414665-16452289)x1
NCBI36/hg18 16p13.11-12.3(chr16:14717474-16702274)x3
NCBI36/hg18 16p13.11-12.3(chr16:14775693-18645531)x1
NCBI36/hg18 16p13.3(chr16:2992291-4951703)x3
NCBI36/hg18 16q22.1-23.1(chr16:68147544-74497244)x1
NCBI36/hg18 17p11.2(chr17:16543870-20291697)x3
NCBI36/hg18 17p11.2(chr17:16543870-20336127)x1
NCBI36/hg18 17p11.2(chr17:16543870-20403991)x1
NCBI36/hg18 17p11.2(chr17:16723272-20317415)x3
NCBI36/hg18 17p11.2(chr17:17175550-18861822)x3
NCBI36/hg18 17p11.2-q25.3(chr17:16698288-20375302)x3
NCBI36/hg18 17p12(chr17:14052697-15382903)x1
NCBI36/hg18 17p12(chr17:14052697-15382903)x3
NCBI36/hg18 17p12(chr17:14072673-15382903)x1
NCBI36/hg18 17p12-11.2(chr17:15676917-20501917)x3
NCBI36/hg18 17p12-11.2(chr17:15726848-20522062)x1
NCBI36/hg18 17p13.3(chr17:11879-2111963)x1
NCBI36/hg18 17p13.3(chr17:1734-2816788)x3
NCBI36/hg18 17p13.3(chr17:2469038-2526691)x1
NCBI36/hg18 17p13.3-13.2(chr17:48539-4989051)x3
NCBI36/hg18 17q11.2(chr17:26185928-27259539)x1
NCBI36/hg18 17q11.2(chr17:26453026-27351071)x1
NCBI36/hg18 17q11.2(chr17:26543143-26602125)x1
NCBI36/hg18 17q12(chr17:31628418-33242328)x3
NCBI36/hg18 17q12(chr17:31840920-33584617)x3
NCBI36/hg18 17q12(chr17:31864322-33242328)x1
NCBI36/hg18 17q12(chr17:31864322-33262906)x3
NCBI36/hg18 17q12-25.3(chr17:31840920-33584617)x1
NCBI36/hg18 17q21.31(chr17:41007864-41645041)x1
NCBI36/hg18 17q21.31-21.32(chr17:41062678-42081159)x1
NCBI36/hg18 18p11.21-q23(chr18:16783904-76113881)x3
NCBI36/hg18 18p11.32-11.21(chr18:4275-12784384)x1
NCBI36/hg18 18p11.32-11.21(chr18:4275-13616665)x1
NCBI36/hg18 18p11.32-11.22(chr18:4275-8741794)x1
NCBI36/hg18 18p11.32-q11.1(chr18:4275-15370696)x1
NCBI36/hg18 18q21.31-23(chr18:53070123-76113881)x1
NCBI36/hg18 18q22.1-23(chr18:60681096-76113881)x1
NCBI36/hg18 18q22.3-23(chr18:71084749-76113881)x1
NCBI36/hg18 18q23(chr18:71538052-76113881)x1
NCBI36/hg18 18q23(chr18:74092733-76113881)x1
NCBI36/hg18 18q23(chr18:74678832-76113881)x1
NCBI36/hg18 18q23(chr18:74999242-76113881)x1
NCBI36/hg18 19p13.2-13.13(chr19:10257803-12929208)x1
NCBI36/hg18 1p13.3-q12(chr1:107739580-121052215)x3
NCBI36/hg18 1p21.1(chr1:103987012-104085805)x1
NCBI36/hg18 1p21.1-13.2(chr1:103454883-112214842)x1
NCBI36/hg18 1p21.3-21.1(chr1:97544595-104085805)x1
NCBI36/hg18 1p36.22-36.21(chr1:10393568-15952112)x1
NCBI36/hg18 1p36.23-36.13(chr1:8941506-16358337)x3
NCBI36/hg18 1p36.32-36.23(chr1:3649905-8912677)x1
NCBI36/hg18 1p36.32-36.23(chr1:5199486-8455002)x1
NCBI36/hg18 1p36.33-36.23(chr1:4737-7424898)x1
NCBI36/hg18 1p36.33-36.23(chr1:4737-8734404)x1
NCBI36/hg18 1p36.33-36.31(chr1:880814-6528884)x1
NCBI36/hg18 1p36.33-36.32(chr1:703947-2543868)x1
NCBI36/hg18 1p36.33-36.32(chr1:724458-2812506)x1
NCBI36/hg18 1p36.33-36.32(chr1:836543-3394283)x1
NCBI36/hg18 1p36.33-36.32(chr1:836543-3987287)x1
NCBI36/hg18 1p36.33-36.32(chr1:880814-5275573)x1
NCBI36/hg18 1q12-21.2(chr1:142438195-148002773)x3
NCBI36/hg18 1q21.1(chr1:144475856-146273270)x3
NCBI36/hg18 1q21.1(chr1:144475856-146327235)x3
NCBI36/hg18 1q21.1(chr1:144475856-146354363)x3
NCBI36/hg18 1q21.1(chr1:144500222-146294712)x1
NCBI36/hg18 1q21.1(chr1:144500222-146327235)x1
NCBI36/hg18 1q21.1(chr1:144516036-146211585)x3
NCBI36/hg18 1q21.1(chr1:144516036-146300819)x1
NCBI36/hg18 1q21.1(chr1:144516147-147083653)x3
NCBI36/hg18 1q21.1(chr1:144607634-146327235)x3
NCBI36/hg18 1q21.1(chr1:144764751-147083653)x3
NCBI36/hg18 1q21.1(chr1:144785382-146294712)x1
NCBI36/hg18 1q21.1(chr1:144785382-146327235)x1
NCBI36/hg18 1q21.1(chr1:144785382-146327235)x3
NCBI36/hg18 1q21.1(chr1:144785382-146354363)x3
NCBI36/hg18 1q21.1(chr1:144854546-146188493)x1
NCBI36/hg18 1q21.1-44(chr1:144475856-146327235)x3
NCBI36/hg18 1q21.1-44(chr1:144764751-146294712)x1
NCBI36/hg18 1q21.3-23.1(chr1:152279618-155315215)x3
NCBI36/hg18 1q32.2-32.3(chr1:206303429-210147777)x1
NCBI36/hg18 1q42.12-44(chr1:223134347-247179289)x3
NCBI36/hg18 1q42.2-43(chr1:230741716-240705460)x1
NCBI36/hg18 1q43-44(chr1:241583528-247179289)x1
NCBI36/hg18 1q44(chr1:243772832-247179289)x3
NCBI36/hg18 20p11.1-q12(chr20:25724163-38476534)x3
NCBI36/hg18 20p13-q11.1(chr20:18580-28133653)x3
NCBI36/hg18 20q11.21-13.12(chr20:30304027-45716006)x1
NCBI36/hg18 20q13.33(chr20:60957622-61736765)x1
NCBI36/hg18 20q13.33(chr20:61040458-62419599)x1
NCBI36/hg18 21q11.2-22.3(chr21:14452241-46915388)x3
NCBI36/hg18 21q11.2-22.3(chr21:14456866-46915388)x3
NCBI36/hg18 21q22.2-22.3(chr21:40589822-46915388)x1
NCBI36/hg18 21q22.3(chr21:42300424-46915388)x3
NCBI36/hg18 21q22.3(chr21:44639354-46914745)x1
NCBI36/hg18 21q22.3(chr21:45622504-46915388)x1
NCBI36/hg18 22q11.1-11.21(chr22:14874839-17228020)x3
NCBI36/hg18 22q11.1-11.21(chr22:15575915-18237375)x1
NCBI36/hg18 22q11.21(chr22:17021420-20014857)x3
NCBI36/hg18 22q11.21(chr22:17041699-20014857)x1
NCBI36/hg18 22q11.21(chr22:17041699-20043055)x1
NCBI36/hg18 22q11.21(chr22:17041699-20230621)x3
NCBI36/hg18 22q11.21(chr22:17093432-19770515)x1
NCBI36/hg18 22q11.21(chr22:17093432-20187001)x1
NCBI36/hg18 22q11.21(chr22:17093432-20213938)x3
NCBI36/hg18 22q11.21(chr22:17198370-19355719)x1
NCBI36/hg18 22q11.21(chr22:17198370-19794056)x1
NCBI36/hg18 22q11.21(chr22:17198370-19991436)x1
NCBI36/hg18 22q11.21(chr22:17210768-18691613)x3
NCBI36/hg18 22q11.21(chr22:17210768-19891528)x3
NCBI36/hg18 22q11.21(chr22:17210768-20230621)x3
NCBI36/hg18 22q11.21(chr22:17270162-19794056)x1
NCBI36/hg18 22q11.21(chr22:17270162-19794056)x3
NCBI36/hg18 22q11.21(chr22:17274902-19770515)x1
NCBI36/hg18 22q11.21(chr22:17318191-19770515)x3
NCBI36/hg18 22q11.21-11.22(chr22:20247191-21289668)x1
NCBI36/hg18 22q11.21-13.33(chr22:17093432-20230621)x3
NCBI36/hg18 22q13.1-13.33(chr22:37677186-49565879)x3
NCBI36/hg18 22q13.31-13.33(chr22:46852166-49584036)x1
NCBI36/hg18 22q13.32-13.33(chr22:47288811-49584036)x1
NCBI36/hg18 22q13.32-13.33(chr22:47558263-49584036)x1
NCBI36/hg18 22q13.33(chr22:49204004-49525130)x1
NCBI36/hg18 22q13.33(chr22:49204021-49584036)x1
NCBI36/hg18 22q13.33(chr22:49470363-49540550)x1
NCBI36/hg18 2p15-14(chr2:63523213-66187174)x1
NCBI36/hg18 2p16.3(chr2:50366412-50810841)x1
NCBI36/hg18 2p16.3(chr2:51059401-51132794)x1
NCBI36/hg18 2p16.3-11.2(chr2:47701031-86783356)x3
NCBI36/hg18 2p16.3-q37.3(chr2:50746132-51114218)x1
NCBI36/hg18 2p24.1-22.3(chr2:22791697-33797628)x3
NCBI36/hg18 2q13-14.1(chr2:111018017-116424370)x3
NCBI36/hg18 2q14.1-14.3(chr2:115474610-126160948)x1
NCBI36/hg18 2q21.2-22.1(chr2:134449789-141806260)x1
NCBI36/hg18 2q23.1(chr2:148503530-148823038)x1
NCBI36/hg18 2q23.3-24.1(chr2:152186442-159075323)x1
NCBI36/hg18 2q23.3-24.1(chr2:154516687-159370106)x1
NCBI36/hg18 2q24.1-24.3(chr2:155654482-165398588)x1
NCBI36/hg18 2q24.2-24.3(chr2:161482041-165018504)x1
NCBI36/hg18 2q24.3(chr2:165371775-165947910)x1
NCBI36/hg18 2q24.3(chr2:166310908-167170551)x1
NCBI36/hg18 2q24.3-31.1(chr2:164252567-169962907)x1
NCBI36/hg18 2q24.3-31.1(chr2:167008313-175058783)x1
NCBI36/hg18 2q31.1-31.3(chr2:173732236-180941354)x1
NCBI36/hg18 2q31.1-31.3(chr2:176763642-181677102)x1
NCBI36/hg18 2q36.3-37.1(chr2:230043078-233878120)x3
NCBI36/hg18 2q37.1-37.3(chr2:233625297-242677067)x1
NCBI36/hg18 3p14.1-12.3(chr3:68967377-75075264)x1
NCBI36/hg18 3p24.1-22.3(chr3:29230447-34997810)x1
NCBI36/hg18 3p25.3-25.2(chr3:10010404-11746570)x1
NCBI36/hg18 3p26.3(chr3:48707-2337770)x1
NCBI36/hg18 3p26.3-26.2(chr3:68949-4537686)x1
NCBI36/hg18 3q12.3-13.31(chr3:102660531-117711789)x1
NCBI36/hg18 3q13.2-13.31(chr3:113635324-116990586)x1
NCBI36/hg18 3q26.31-26.33(chr3:175313014-183652825)x1
NCBI36/hg18 3q26.32-29(chr3:178729187-199321446)x3
NCBI36/hg18 3q27.2-29(chr3:187121562-197936041)x1
NCBI36/hg18 3q29(chr3:197224799-198808964)x1
NCBI36/hg18 4p16.3(chr4:1249775-2816207)x1
NCBI36/hg18 4p16.3(chr4:23574-2297026)x1
NCBI36/hg18 4p16.3-16.1(chr4:23574-6664601)x3
NCBI36/hg18 4p16.3-16.2(chr4:23574-4566260)x1
NCBI36/hg18 4q12-23(chr4:58887580-102109610)x1
NCBI36/hg18 4q13.3-21.1(chr4:74973405-77615964)x1
NCBI36/hg18 4q21.23-22.2(chr4:85469728-94794648)x1
NCBI36/hg18 4q22.1-22.2(chr4:88522657-94773982)x1
NCBI36/hg18 4q32.3-35.2(chr4:169496477-190706509)x3
NCBI36/hg18 4q34.1-35.2(chr4:175307909-189417203)x1
NCBI36/hg18 4q34.3-35.2(chr4:181784438-191027905)x1
NCBI36/hg18 4q35.1-35.2(chr4:185590129-191027905)x1
NCBI36/hg18 5p15.2-14.3(chr5:11896482-21490697)x1
NCBI36/hg18 5p15.33-15.1(chr5:75149-17824563)x1
NCBI36/hg18 5p15.33-15.2(chr5:75149-10346118)x3
NCBI36/hg18 5q14.3(chr5:85114478-89312463)x1
NCBI36/hg18 5q22.2-22.3(chr5:112183036-113974630)x1
NCBI36/hg18 5q23.2-23.3(chr5:122470366-130008038)x1
NCBI36/hg18 5q23.2-31.1(chr5:126889565-135297054)x1
NCBI36/hg18 5q32-34(chr5:146538010-163175431)x3
NCBI36/hg18 5q34-35.3(chr5:164323950-180629412)x3
NCBI36/hg18 5q35.2-35.3(chr5:176323157-176812134)x3
NCBI36/hg18 6p11.1-q13(chr6:62025200-71904964)x3
NCBI36/hg18 6p21.1-12.3(chr6:42799759-46394237)x1
NCBI36/hg18 6p25.3(chr6:5523-1689166)x1
NCBI36/hg18 6p25.3-22.3(chr6:97634-15840373)x3
NCBI36/hg18 6p25.3-25.2(chr6:1435869-2622704)x1
NCBI36/hg18 6q14.3-15(chr6:85835807-89169776)x3
NCBI36/hg18 6q22.1-22.31(chr6:116164972-123944553)x1
NCBI36/hg18 6q22.31-24.3(chr6:121394722-146272583)x3
NCBI36/hg18 6q22.31-25.3(chr6:124322082-156156864)x3
NCBI36/hg18 6q23.3-24.3(chr6:136383481-146690635)x1
NCBI36/hg18 6q24.1-24.3(chr6:142099424-145734093)x1
NCBI36/hg18 6q26-27(chr6:163550469-170885314)x1
NCBI36/hg18 6q27(chr6:167095142-170885314)x1
NCBI36/hg18 6q27(chr6:168976966-170763014)x1
NCBI36/hg18 7p21.1(chr7:19108940-19144874)x1
NCBI36/hg18 7p21.3-21.1(chr7:8990160-17361999)x1
NCBI36/hg18 7q11.23(chr7:72283415-73779626)x1
NCBI36/hg18 7q11.23(chr7:72290287-73816397)x3
NCBI36/hg18 7q11.23(chr7:72323639-73779626)x1
NCBI36/hg18 7q11.23(chr7:72338350-73826567)x3
NCBI36/hg18 7q11.23(chr7:74940296-76078704)x1
NCBI36/hg18 7q11.23(chr7:74997129-76093800)x1
NCBI36/hg18 7q21.3(chr7:92781094-94775842)x1
NCBI36/hg18 7q31.1(chr7:107617257-111374735)x1
NCBI36/hg18 7q31.1-31.32(chr7:107600434-122936004)x1
NCBI36/hg18 7q35-36.3(chr7:146117655-151686548)x1
NCBI36/hg18 8p12-q11.1(chr8:33992067-43661127)x3
NCBI36/hg18 8p12-q11.1(chr8:37461385-43661127)x1
NCBI36/hg18 8p21.2-21.1(chr8:23715057-27417492)x1
NCBI36/hg18 8p22-12(chr8:15163283-32340191)x1
NCBI36/hg18 8p23.1(chr8:7256229-11843369)x1
NCBI36/hg18 8p23.1(chr8:8167876-11897788)x1
NCBI36/hg18 8p23.1-11.21(chr8:12600356-41803712)x3
NCBI36/hg18 8p23.1-12(chr8:12580176-36960477)x3
NCBI36/hg18 8p23.3-21.3(chr8:181530-22460928)x3
NCBI36/hg18 8p23.3-23.1(chr8:166464-6929749)x1
NCBI36/hg18 8p23.3-23.1(chr8:3938-6907732)x1
NCBI36/hg18 8p23.3-q11.1(chr8:166464-43661127)x3
NCBI36/hg18 8p23.3-q24.3(chr8:3938-146264864)x3
NCBI36/hg18 8q11.23-12.1(chr8:54588524-58529527)x1
NCBI36/hg18 8q12.1-12.2(chr8:60262340-62183936)x1
NCBI36/hg18 8q21.11-21.12(chr8:76793199-78775345)x1
NCBI36/hg18 8q21.12-21.13(chr8:79634635-84683862)x1
NCBI36/hg18 8q24.21-24.3(chr8:127737334-144434387)x1
NCBI36/hg18 8q24.22-24.3(chr8:131751745-146250824)x3
NCBI36/hg18 9p13.3(chr9:32855025-32986644)x1
NCBI36/hg18 9p24.3-22.1(chr9:2934-19738412)x3
NCBI36/hg18 9p24.3-23(chr9:31268-9861898)x1
NCBI36/hg18 9p24.3-24.1(chr9:194090-4671722)x1
NCBI36/hg18 9p24.3-24.2(chr9:2934-2756856)x1
NCBI36/hg18 9p24.3-q12(chr9:2934-47102101)x3
NCBI36/hg18 9p24.3-q34.3(chr9:2934-140241935)x3
NCBI36/hg18 9q22.32-22.33(chr9:95946863-99986314)x1
NCBI36/hg18 9q33.1-34.3(chr9:121706881-140129094)x3
NCBI36/hg18 9q34.11(chr9:129897671-130870711)x1
NCBI36/hg18 9q34.11(chr9:129952370-131579844)x1
NCBI36/hg18 9q34.2-34.3(chr9:136320394-139555966)x3
NCBI36/hg18 9q34.3(chr9:139527393-140173346)x1
NCBI36/hg18 9q34.3(chr9:139588686-140129094)x1
NCBI36/hg18 Xp11.22-q13.3(chrX:52587481-74149351)
NCBI36/hg18 Xp11.23-q25(chrX:48989698-122697540)
NCBI36/hg18 Xp21.1(chrX:31798913-31830748)x1
NCBI36/hg18 Xp21.1(chrX:31963601-32158161)x1
NCBI36/hg18 Xp21.1(chrX:33050560-35821705)x1
NCBI36/hg18 Xp22.31(chrX:6459700-8075193)x1
NCBI36/hg18 Xp22.31(chrX:6638264-7788224)x0
NCBI36/hg18 Xp22.31(chrX:8379281-8793845)x1
NCBI36/hg18 Xp22.31-22.2(chrX:8210344-9662358)x1
NCBI36/hg18 Xp22.31-q28(chrX:6463313-8075193)x1
NCBI36/hg18 Xp22.33(chrX:252972-2751276)x3
NCBI36/hg18 Xp22.33(chrX:264213-593537)x1
NCBI36/hg18 Xp22.33(chrX:439455-512812)x1
NCBI36/hg18 Xp22.33(chrX:701-2863111)x3
NCBI36/hg18 Xp22.33-22.12(chrX:701-21794281)x3
NCBI36/hg18 Xp22.33-q28(chrX:109791-154861581)x3
NCBI36/hg18 Xp22.33-q28(chrX:3688184-154582499)x3
NCBI36/hg18 Xp22.33-q28(chrX:701-154861581)x3
NCBI36/hg18 Xp22.33-q28(chrX:701-154879343)x3
NCBI36/hg18 Xp22.33-q28(chrX:701-154899838)x1
NCBI36/hg18 Xp22.33-q28(chrX:701-154899838)x3
NCBI36/hg18 Xq11.1(chrX:61848425-63346191)x1
NCBI36/hg18 Xq21.1-21.31(chrX:77311098-89825191)x1
NCBI36/hg18 Xq21.31-21.32(chrX:88376119-92244068)x3
NCBI36/hg18 Xq27.3-28(chrX:142766618-154899838)x3
NCBI36/hg18 Xq27.3-28(chrX:146558195-147126824)x0
NCBI36/hg18 Xq28(chrX:152617580-153258660)x3
NCBI36/hg18 Yp11.31-11.2(chrY:2994029-6154557)x3
NCBI36/hg18 Yp11.32(chrY:256952-593541)x1
NCBI36/hg18 Yp11.32(chrY:439455-510957)x1
NCBI36/hg18 Yp11.32-11.2(chrY:863-6162459)x3
NCBI36/hg18 Yp11.32-11.31(chrY:863-2666240)x3
NCBI36/hg18 Yp11.32-q11.221(chrY:863-18075930)x3
NCBI36/hg18 Yp11.32-q12(chrY:109791-57759038)x3
NCBI36/hg18 Yp11.32-q12(chrY:444770-57498135)x3
NCBI36/hg18 Yp11.32-q12(chrY:679-57764265)x0
NCBI36/hg18 Yp11.32-q12(chrY:863-57759038)x3
NCBI36/hg18 Yq11.1-12(chrY:12380873-57745301)x0
NCBI36/hg18 Yq11.21-11.23(chrY:13031202-26716642)
NCBI36/hg18 Yq11.221-11.23(chrY:18338506-26719714)x1
NCBI36/hg18 Yq12(chrY:57486859-57738451)x3
NC_000001.11:g.(146472798_148439081)dup rs2101549505
NC_000001.11:g.(169378821_180862722)dup rs2102013602
NC_000001.11:g.231487317_231487320del rs527236214
NC_000002.10:g.146798229_150310317del
NC_000002.11:g.(215928788_?)del
NC_000002.11:g.(?_86565200)_(86481816_86479194)del
NC_000002.12:g.(211789273_236710421)dup rs2106321147
NC_000002.12:g.118561491_118589321del
NC_000006.10:g.(159830469_159869956)_(170226118_170673013)del
NC_000006.10:g.(160991083_161362841)_(170663087_170899992)del
NC_000006.10:g.(162784565_163027519)_(170688258_170899992)del
NC_000006.10:g.(164665044_164690316)_(170688258_170899992)del
NC_000006.10:g.(165249445_165297427)_(170688258_170899992)del
NC_000006.10:g.(168690655_168741459)_(170663087_170899992)del
NC_000006.10:g.(169148957_169163197)_(170663087_170899992)del
NC_000006.12:g.(?_20998486)dup rs2150813666
NC_000007.14:g.62535490A>G rs483352872
NC_000008.11:g.228116G>C rs1584891562
NC_000009.12:g.(11602477_30815418)dup rs2118502692
NC_000009.12:g.(203986_38773587)dup rs2131288871
NC_000009.12:g.12891379_qterdelins[T;NC_000020.11:g.47204889_qterinv]
NC_000011.10:g.61969097_61969098insGA
NC_000013.10:g.114819939_qterdelins[96729864_114814234inv;96735632_104289803]
NC_000015.9:g.(44884528_44881613)_(44877833_44876757)dup
NC_000015.9:g.(44887456_44884637)_(44881449_44878049)del
NC_000015.9:g.(?_44955845)_(44918529_44914997)del
NC_000016.10:g.54716967_54716968ins[54716967_55565004;AGCTAACAAGTAATACCTAACAGTTATTCAGC]
NC_000016.10:g.86072090_86072129dup rs1567518954
NC_000016.10:g.88322074_88332073del
NC_000016.10:g.89944064G>A
NC_000016.9:g.88172538_88337600del
NC_000016.9:g.88224066_88408991del
NC_000016.9:g.88257445_88409236del
NC_000016.9:g.89839142_89867355del
NC_000016.9:g.89840944_89876535del
NC_000016.9:g.89840966_89866228del
NC_000016.9:g.89857046_89867362del
NC_000016.9:g.89863188_89878500del
NC_000018.10:g.60033942_60033993del rs2144716942
NC_000023.11:g.155985220_155986351delinsT
NC_000024.10:g.2792795A>G
NC_000024.10:g.2792798G>A
NM_000135.2(FANCA):c.1006+539_3066+898del
NM_000135.2(FANCA):c.1006+727_1626+1288del
NM_000135.2(FANCA):c.1359+1138_1900+1140del
NM_000135.2(FANCA):c.1470+801_(*1050_?)del
NM_000135.2(FANCA):c.1626+1433_3349-564del
NM_000135.2(FANCA):c.1626+588_2778+888del
NM_000135.2(FANCA):c.1626+637_2778+1111del
NM_000135.2(FANCA):c.1716-215_2779-1067del
NM_000135.2(FANCA):c.1827-835_2779-1050del
NM_000135.2(FANCA):c.1901-1154_2779-889del
NM_000135.2(FANCA):c.2505-976_(*1050_?)del
NM_000135.2(FANCA):c.2852+553_(*1050_?)del
NM_000135.2(FANCA):c.2852+734_3067-376del
NM_000135.2(FANCA):c.2853-382_*1312del
NM_000135.2(FANCA):c.2981+611_*1153del
NM_005112.2(WDR1):c.4198C>T rs540561511
NP_000531.2:p.4894Q
NP_000531.2:p.F4860del
NP_000531.2:p.F4906del
NP_000531.2:p.G4893R
NP_000531.2:p.L4647del
NR_039729.1(MIR2392):n.-10132_-1575del
Single allele
XGR, (rs311103)
XM_011517384.2:c.1149G>A
c.10_11 ins10bp
c.1180-1181delCT
c.1263+81_1596+?del
c.1308C>T
c.1323C>T
c.1330-1333delTTCC
c.599C>T
c.667_684del(664_681del)
c.[708G>C]+[784C>T]
c.[c.38dupA]+[1571G>A]
chr17:g.(AC027266_AL353996)_(AC015726-AC087393)del
del(15)(q15.1-q15.3)
der(6)t(6;10)(p25.2;q26.3)
der(6)t(6;7)(p25.3;q32.3)
g.96677_99386del2710
ins(8;14)(q24.21;q32.33)
mitochondrial DNA deletion
nsv1067844
nsv491550
p.L4796C
p.M2434K
t(14;18)(q32.33;q21.33)
t(3;11)(q27;p11.2)

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