ClinVar Miner

List of variants in gene ENPP1 reported as benign for Hypophosphatemic Rickets, Recessive

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.*698_*699insA rs113083049 0.10931
NM_006208.3(ENPP1):c.*3615dup rs112718541
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_006208.3(ENPP1):c.313+9GT[18] rs59956343

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