ClinVar Miner

List of variants reported as pathogenic for See cases by ISCA site 14

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 17q12(chr17:34450405-36248918)x1
GRCh37/hg19 17q12(chr17:34508117-36248918)x3
GRCh37/hg19 17q12(chr17:34856055-36248918)x3
GRCh37/hg19 1q21.1(chr1:144810725-146858488)x1
GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1
GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1
GRCh38/hg38 11p15.5(chr11:758848-1998025)x1
GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3
GRCh38/hg38 12q24.31(chr12:121325874-122505529)x1
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x1
GRCh38/hg38 15q14(chr15:34588015-39280404)x1
GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x1
GRCh38/hg38 16p11.2(chr16:29581462-30179247)x3
GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1
GRCh38/hg38 16p13.11(chr16:15457445-16100721)x1
GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3
GRCh38/hg38 17p11.2(chr17:17726750-17797183)x1
GRCh38/hg38 17p12(chr17:15249474-15259215)x1
GRCh38/hg38 17q12(chr17:36357258-37889296)x3
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3
GRCh38/hg38 18q23(chr18:75946906-80252149)x1
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3
GRCh38/hg38 19q13.2-13.31(chr19:41930894-43141456)x1
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1
GRCh38/hg38 1q21.1-21.2(chr1:145215697-149076087)x3
GRCh38/hg38 1q21.1-21.2(chr1:146987841-148436984)x1
GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1
GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1
GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1
GRCh38/hg38 1q44(chr1:243786629-248918469)x1
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3
GRCh38/hg38 21q22.3(chr21:45801860-46670405)x1
GRCh38/hg38 22q11.1-11.21(chr22:16916608-18718532)x3
GRCh38/hg38 22q11.21(chr22:18339130-21086225)x3
GRCh38/hg38 22q11.21(chr22:18339130-21151128)x1
GRCh38/hg38 22q11.21(chr22:18339130-21207225)x1
GRCh38/hg38 22q11.21(chr22:18339130-21454720)x1
GRCh38/hg38 22q11.21(chr22:18932429-20324240)x1
GRCh38/hg38 22q11.21(chr22:20354600-21053401)x1
GRCh38/hg38 22q11.21(chr22:20732418-21091671)x3
GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1
GRCh38/hg38 22q13.31-13.33(chr22:47234701-50739836)x1
GRCh38/hg38 2p16.3(chr2:50710306-51087292)x1
GRCh38/hg38 2q11.1-11.2(chr2:95879602-97285797)x1
GRCh38/hg38 2q11.2(chr2:98787057-100785053)x1
GRCh38/hg38 2q13(chr2:110025659-110371270)x0
GRCh38/hg38 2q22.3-23.3(chr2:147590324-153496674)x1
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1
GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1
GRCh38/hg38 3p22.3-22.2(chr3:33062199-36829440)x1
GRCh38/hg38 3q22.3(chr3:138945182-138946841)x1
GRCh38/hg38 3q28(chr3:188362559-189767088)x1
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3
GRCh38/hg38 3q29(chr3:196013486-197590232)x1
GRCh38/hg38 3q29(chr3:196013486-197590232)x3
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3
GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1
GRCh38/hg38 5p13.2(chr5:36834830-36906334)x1
GRCh38/hg38 5p15.33-15.2(chr5:22149-10044087)x1
GRCh38/hg38 5q14.3-15(chr5:87124838-93383020)x3
GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1
GRCh38/hg38 5q35.2-35.3(chr5:176043476-177995759)x1
GRCh38/hg38 5q35.2-35.3(chr5:176132340-177586960)x1
GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1
GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1
GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1
GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3
GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3
GRCh38/hg38 9q21.13-21.31(chr9:73706686-80370629)x1
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3
GRCh38/hg38 Xp22.13-22.12(chrX:18660565-19743908)x1
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1
GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3
GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3

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