ClinVar Miner

List of variants reported as pathogenic for rhizomelic chondrodysplasia punctata by Myriad Genetics, Inc.

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_000288.4(PEX7):c.875T>A (p.Leu292Ter)	rs1805137	0.00048
NM_000288.4(PEX7):c.903+1G>C	rs148591292	0.00011

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