ClinVar Miner

List of variants reported as pathogenic for autosomal anomaly by New York Genome Center

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)
NC_000001.10:g.4481271_20530242del
NC_000007.14:g.(75058300_?)_(?_79083658)del
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
Single allele

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