ClinVar Miner

List of variants reported as likely pathogenic by ISCA Site 6

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 10p14(chr10:8056289-8118665)x3
GRCh37/hg19 10q11.22-11.23(chr10:49392896-52372011)x3
GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1
GRCh37/hg19 11q23.1(chr11:111779685-111797221)x1
GRCh37/hg19 12q15(chr12:70588735-71366869)x1
GRCh37/hg19 12q24.31(chr12:123404920-124192840)
GRCh37/hg19 14q22.3(chr14:56559797-58063452)x1
GRCh37/hg19 15q13.1-13.2(chr15:29214105-30366065)x1
GRCh37/hg19 16p11.2(chr16:28826162-29043901)x1
GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1
GRCh37/hg19 16q24.3(chr16:89388113-89541926)x1
GRCh37/hg19 17p13.3(chr17:900530-1747271)x3
GRCh37/hg19 18q23(chr18:74347427-75077574)x3
GRCh37/hg19 19p13.2(chr19:13180583-13319148)x3
GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3
GRCh37/hg19 1p36.33(chr1:1477184-2239438)x1
GRCh37/hg19 1q44(chr1:244091747-244745425)x1
GRCh37/hg19 20q11.21(chr20:30947071-31052777)x1
GRCh37/hg19 20q13.33(chr20:62662139-62714797)x1
GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1
GRCh37/hg19 22q13.1(chr22:38322968-38965458)
GRCh37/hg19 2p15(chr2:61335464-61757267)x1
GRCh37/hg19 2q37.3(chr2:242045569-243040217)x1
GRCh37/hg19 3p25.2(chr3:12633308-12777019)x3
GRCh37/hg19 3p26.3(chr3:315102-1125700)x1
GRCh37/hg19 3p26.3-26.2(chr3:2756990-2818938)x3
GRCh37/hg19 3q21.1(chr3:123477546-123688038)x1
GRCh37/hg19 6q14.1(chr6:76621150-76780723)x1
GRCh37/hg19 7p15.3-15.2(chr7:25448425-27578387)x3
GRCh37/hg19 7q11.22(chr7:69736775-69822421)x1
GRCh37/hg19 7q11.22(chr7:70145924-70236757)x1
GRCh37/hg19 7q11.23(chr7:73791725-74133273)x1
GRCh37/hg19 7q34(chr7:140616125-140740863)x3
GRCh37/hg19 7q35(chr7:146333770-146445991)x1
GRCh37/hg19 8p23.1(chr8:11362682-11709476)x3
GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1
GRCh37/hg19 9p24.3(chr9:404753-407272)x1
GRCh37/hg19 9q22.32(chr9:97827936-98639567)
GRCh37/hg19 9q31.3(chr9:111529810-113539990)x3
GRCh37/hg19 9q34.3(chr9:140550908-140632178)x1
GRCh37/hg19 Xp11.23(chrX:47705458-47863717)x3
GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2
GRCh37/hg19 Xp22.11(chrX:23018417-23093129)x0
GRCh37/hg19 Xq28(chrX:152864415-152878922)x1
GRCh38/hg38 16p11.2(chr16:29609368-30179188)x3
GRCh38/hg38 16p13.11(chr16:15398450-16211820)x1
GRCh38/hg38 1q21.1(chr1:145691625-146082575)x3
GRCh38/hg38 1q21.1-21.2(chr1:146964168-148572213)x1

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