ClinVar Miner

List of variants reported as uncertain significance for cartilage-hair hypoplasia by 3billion

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
NR_003051.4(RMRP):n.232C>T	rs762145032	0.00001
NR_003051.3(RMRP):n.5_6insTACTCTGTGAAGCTGAGGACGTGGTTC	rs1554651349

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