ClinVar Miner

List of variants reported as likely pathogenic by ISCA site 4

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Total variants: 14
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HGVS dbSNP
GRCh38/hg38 15q13.3(chr15:31772780-32217731)x1
GRCh38/hg38 15q26.1(chr15:92900864-93043584)x1
GRCh38/hg38 1q21.1-21.2(chr1:147036093-148352084)x3
GRCh38/hg38 2p25.2-25.1(chr2:4416714-7632837)x1
GRCh38/hg38 2q14.2(chr2:120621488-121102933)x3
GRCh38/hg38 2q22.3-23.1(chr2:147713771-148177277)x1
GRCh38/hg38 6q25.3(chr6:156228411-157108989)x1
GRCh38/hg38 Xp11.22(chrX:50659076-50865411)x3
GRCh38/hg38 Xq13.1(chrX:69839596-70301821)x1
GRCh38/hg38 Xq26.2-26.3(chrX:134405152-134565964)x2
GRCh38/hg38 Xq28(chrX:153688786-153697345)x0
GRCh38/hg38 Xq28(chrX:153688786-153697345)x1
GRCh38/hg38 Xq28(chrX:154890313-155331062)x1
GRCh38/hg38 Xq28(chrX:154931352-155331063)x1

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