ClinVar Miner

List of variants in gene MPZ reported as uncertain significance by Athena Diagnostics Inc

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417 0.00001
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) rs1553259811
NM_000530.8(MPZ):c.155_157del (p.Phe52del) rs1553259786
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr) rs2102259788
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.317G>C (p.Arg106Pro) rs145039212
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
NM_000530.8(MPZ):c.362A>C (p.Asp121Ala) rs1571818953
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu)
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.68-3C>A rs1182729605
NM_000530.8(MPZ):c.74C>T (p.Ser25Phe) rs1553259827

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