ClinVar Miner

List of variants in gene MPZ reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.*568C>G rs60731755 0.01265
NM_000530.8(MPZ):c.235-166C>T rs115445049 0.00793
NM_000530.8(MPZ):c.449-63G>A rs115523609 0.00283
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_000530.8(MPZ):c.24C>T (p.Ser8=) rs144841836 0.00037
NM_000530.8(MPZ):c.270C>T (p.Asp90=) rs121913584 0.00010
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540 0.00004
NM_000530.8(MPZ):c.708G>A (p.Lys236=) rs768913825 0.00002
NM_000530.8(MPZ):c.531C>T (p.Tyr177=) rs779159258 0.00001
NM_000530.8(MPZ):c.663A>G (p.Ala221=) rs1404344759 0.00001
NM_000530.8(MPZ):c.*360C>G rs6682046
NM_000530.8(MPZ):c.40C>T (p.Leu14=)
NM_000530.8(MPZ):c.417C>T (p.Thr139=) rs1571818696
NM_000530.8(MPZ):c.42G>A (p.Leu14=) rs1670359930
NM_000530.8(MPZ):c.67+285_67+286insT rs1553259997

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