ClinVar Miner

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

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 16p11.2(chr16:29656684-30197341)x1
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1
GRCh37/hg19 18q22.1-23(chr18:66459747-78012829)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 5p13.2(chr5:36780915-37073813)x3

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