ClinVar Miner

List of variants reported as pathogenic for PCWH syndrome by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)	rs74315515
NM_006941.4(SOX10):c.941C>A (p.Ser314Ter)	rs1932142815

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