ClinVar Miner

List of variants reported as pathogenic for See cases by ISCA site 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1
GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1
GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3
GRCh38/hg38 15q11.2-13.1(chr15:23411789-28275167)x3
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32217725)x1
GRCh38/hg38 15q13.2-13.3(chr15:30217122-32607357)x1
GRCh38/hg38 15q13.2-13.3(chr15:30291263-32217725)x3
GRCh38/hg38 15q13.2-13.3(chr15:30662523-32217725)x1
GRCh38/hg38 16q23.3-24.1(chr16:83687650-86073240)x1
GRCh38/hg38 17q21.31(chr17:45629520-46273786)x1
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1
GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1
GRCh38/hg38 1q21.1-21.2(chr1:147335698-147909284)x3
GRCh38/hg38 1q43-44(chr1:241625115-245453782)x3
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1
GRCh38/hg38 22q11.21(chr22:18178957-21307146)x3
GRCh38/hg38 22q11.21(chr22:18339130-21307146)x1
GRCh38/hg38 22q11.21-11.22(chr22:21454661-22562663)x1
GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3
GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3
GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1
GRCh38/hg38 3p13-12.3(chr3:71317346-74324671)x1
GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1
GRCh38/hg38 3q26.33(chr3:181689247-181794116)x1
GRCh38/hg38 3q27.2(chr3:185151277-185558406)x1
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1
GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3
GRCh38/hg38 4q31.21-31.23(chr4:143588844-148514027)x1
GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1
GRCh38/hg38 6q24.3-25.1(chr6:148112335-149649984)x1
GRCh38/hg38 6q25.3(chr6:156353632-157449782)x1
GRCh38/hg38 7q11.23(chr7:73352304-74719013)x1
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1
GRCh38/hg38 8p23.1(chr8:7311968-12546553)x3
GRCh38/hg38 8p23.1(chr8:9456230-11013618)x1
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1
GRCh38/hg38 Xp21.1(chrX:31645986-31773985)x1
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8466385)x1
GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1
GRCh38/hg38 Yq11.221-11.223(chrY:13908860-22358529)x1

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