ClinVar Miner

List of variants reported by Qiaoli Li laboratory, Thomas Jefferson University

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006208.3(ENPP1):c.1604A>G (p.His535Arg) rs1210030768 0.00001
NM_000821.7(GGCX):c.1426C>G (p.Arg476Gly)
NM_006208.3(ENPP1):c.1499A>C (p.His500Pro) rs2483504436
NM_006208.3(ENPP1):c.419G>T (p.Cys140Phe) rs1042457866
NM_006208.3(ENPP1):c.497G>A (p.Cys166Tyr) rs2483461894
NM_006208.3(ENPP1):c.787A>T (p.Ile263Phe) rs2483474545

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