ClinVar Miner

List of variants reported as uncertain significance by Research Unit for Rare Diseases, 1st Faculty of Medicine, Charles University in Prague

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001143981.2(CHRDL1):c.207G>C (p.Glu69Asp)	rs2148509597
NM_001143981.2(CHRDL1):c.968G>T (p.Cys323Phe)	rs2148418567
NM_013386.5(SLC25A24):c.1273C>A (p.Leu425Met)	rs780069314

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