ClinVar Miner

List of variants in gene combination GNPAT, LOC129932767 reported as uncertain significance for Rhizomelic chondrodysplasia punctata type 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_014236.4(GNPAT):c.-153A>C	rs537119013	0.00003
NM_014236.4(GNPAT):c.-147G>C	rs868789232	0.00001

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