ClinVar Miner

List of variants reported as likely pathogenic for 12p12.1 microdeletion syndrome by Institute for Human Genetics,University Hospital Essen

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) rs773832380
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159

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