ClinVar Miner

List of variants reported as not provided for pyruvate dehydrogenase deficiency by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (8):

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_006859.4(LIAS):c.850G>A (p.Glu284Lys)	rs796052699	0.00001
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs)	rs1560674852

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