ClinVar Miner

List of variants reported as pathogenic by Medical Genetics Laboratory, CHRU Nancy

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 10p14-13(chr10:9137489-17227168)
GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)
GRCh37/hg19 12p13.32(chr12:3619010-5221363)
GRCh37/hg19 12q24.21(chr12:116484240-116564043)
GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341)
GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)
GRCh37/hg19 15q11.2(chr15:22765628-23085096)
GRCh37/hg19 15q11.2(chr15:22765628-23191062)
GRCh37/hg19 15q11.2-13.1(chr15:23208842-28525460)
GRCh37/hg19 15q13.2-13.3(chr15:30652489-32438943)
GRCh37/hg19 15q13.2-13.3(chr15:30943903-32510863)
GRCh37/hg19 16p11.2(chr16:28615644-29042118)
GRCh37/hg19 16p11.2(chr16:29652999-30197341)
GRCh37/hg19 16p11.2(chr16:29652999-30198600)
GRCh37/hg19 16p11.2(chr16:29673954-30198600)
GRCh37/hg19 16p12.2(chr16:21951379-22407931)
GRCh37/hg19 16p13.11(chr16:15048751-16292235)
GRCh37/hg19 16p13.11(chr16:15492317-16292235)
GRCh37/hg19 16p13.3(chr16:3784414-3821324)
GRCh37/hg19 17p11.2(chr17:16601603-20063369)
GRCh37/hg19 17p11.2(chr17:17145361-20137943)
GRCh37/hg19 17p12(chr17:14100118-15455297)
GRCh37/hg19 17q12(chr17:34437475-36243028)
GRCh37/hg19 17q12(chr17:34817422-36243028)
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)
GRCh37/hg19 19p13.3(chr19:3976203-4345430)
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514)
GRCh37/hg19 1q21.1-21.2(chr1:145818702-147824207)
GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266)
GRCh37/hg19 1q21.1-21.2(chr1:146500972-147851297)
GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)
GRCh37/hg19 1q41-42.12(chr1:223552998-224761890)
GRCh37/hg19 1q43-44(chr1:240554955-247342593)
GRCh37/hg19 20p13(chr20:67778-974841)
GRCh37/hg19 20q13.33(chr20:61510452-62315381)
GRCh37/hg19 22q11.21(chr22:18628019-20311763)
GRCh37/hg19 22q11.21(chr22:18894835-21464119)
GRCh37/hg19 22q11.21(chr22:18909044-21464119)
GRCh37/hg19 22q13.33(chr22:51123491-51219009)
GRCh37/hg19 2p16.3(chr2:50850691-51358881)
GRCh37/hg19 2p16.3(chr2:51172123-51314430)
GRCh37/hg19 2p16.3(chr2:51251498-51491417)
GRCh37/hg19 2q11.1-11.2(chr2:96755045-98021592)
GRCh37/hg19 2q21.3-23.3(chr2:136473383-152727396)
GRCh37/hg19 2q24.3(chr2:165903672-166666206)
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)
GRCh37/hg19 2q37.3(chr2:239860877-241385960)
GRCh37/hg19 3p26.3-26.1(chr3:73914-5940479)
GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)
GRCh37/hg19 3q29(chr3:195419168-197387258)
GRCh37/hg19 3q29(chr3:195747856-197387258)
GRCh37/hg19 4p16.3(chr4:374557-745174)
GRCh37/hg19 4p16.3(chr4:388344-3872380)
GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)
GRCh37/hg19 5q31.2(chr5:136409875-137739167)
GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)
GRCh37/hg19 6q21(chr6:107331934-108121759)
GRCh37/hg19 6q25.2-25.3(chr6:155308263-158394005)
GRCh37/hg19 7p13-12.2(chr7:43341583-50171623)
GRCh37/hg19 7p14.1-12.3(chr7:41124364-47945566)
GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)
GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677)
GRCh37/hg19 9p24.3(chr9:204193-340142)
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)
GRCh37/hg19 9q34.3(chr9:139284464-141018984)
GRCh37/hg19 Xp11.4(chrX:41553564-41696352)
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000)
GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936)
GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858)
GRCh37/hg19 Xp22.33(chrX:61091-787353)
GRCh37/hg19 Xq26.2(chrX:132717085-132924462)
GRCh37/hg19 Xq28(chrX:152649825-152988014)

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