ClinVar Miner

List of variants reported as pathogenic by Medicover Genetics GmbH, Medicover Humangenetik Berlin-Lichtenberg MVZ

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ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 10q11.22-11.23(chr10:46964973-51826226)
GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1
GRCh37/hg19 13q32.1-33.2(chr13:95700999-105271065)x3
GRCh37/hg19 14q32.2-32.31(chr14:100397006-101488936)x1
GRCh37/hg19 15q13.2-13.3(chr15:30921917-32514980)x1
GRCh37/hg19 15q26.3(chr15:99021824-101196161)x1
GRCh37/hg19 16p11.2(chr16:29590554-30197341)x3
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1
GRCh37/hg19 17q11.2-12(chr17:29989741-32355632)
GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)x1
GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1
GRCh37/hg19 2p16.3(chr2:50671549-50860852)x1
GRCh37/hg19 2p21(chr2:47511660-47641537)x1
GRCh37/hg19 2p21(chr2:47547722-47641537)x1
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3
GRCh37/hg19 2p24.1-23.3(chr2:22439520-25608211)x1
GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3
GRCh37/hg19 2q24.1(chr2:157058119-157183736)x1
GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)
GRCh37/hg19 3p26.2-25.3(chr3:3691505-9917651)x1
GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1
GRCh37/hg19 3q13.31(chr3:113623035-114368128)x1
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1
GRCh37/hg19 5p13.2(chr5:36780915-37073813)x3
GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3
GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1
GRCh37/hg19 9p23(chr9:13862493-14155897)x1
GRCh37/hg19 Xp21.3-21.2(chrX:28983262-29783445)x1
GRCh37/hg19 Xp22.11(chrX:23209046-23383351)
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1

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