ClinVar Miner

List of variants reported as pathogenic for PCWH syndrome by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

Included ClinVar conditions (2):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_006941.4(SOX10):c.1155_1174dup (p.Phe392fs)	rs1932131665
NM_006941.4(SOX10):c.207_208del (p.Cys71fs)	rs1932469753
NM_006941.4(SOX10):c.425G>C (p.Trp142Ser)	rs886039664

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