ClinVar Miner

List of variants studied for Primordial dwarfism-immunodeficiency-lipodystrophy syndrome by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000946.3(PRIM1):c.103+1G>T rs762016916
NM_000946.3(PRIM1):c.638+36C>G rs1487483670
NM_000946.3(PRIM1):c.901T>C (p.Cys301Arg) rs1953871835

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