ClinVar Miner

List of variants reported as pathogenic by ISCA site 10

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 10q26.11(chr10:118330136-118685873)x3
GRCh38/hg38 11q22.3(chr11:107479091-108222532)x1
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1
GRCh38/hg38 20q13.33(chr20:64023324-64261777)x1
GRCh38/hg38 22q11.21(chr22:18339130-21447315)x3
GRCh38/hg38 22q11.21-11.22(chr22:21447344-22655838)x1
GRCh38/hg38 2p16.3(chr2:50623553-50754975)x1
GRCh38/hg38 8p23.1(chr8:8764178-11063564)x3

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