ClinVar Miner

List of variants in gene MPZ studied for not specified

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
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.51G>A (p.Leu17=) rs149637045 0.00019
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173 0.00004
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000530.8(MPZ):c.645+12T>C rs750848798 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NC_000001.10:g.(161277215_161279628)_(161279763_?)dup
NM_000530.8(MPZ):c.-34_-17del rs1553260024
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.235-7C>T rs1057522724
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) rs267607244
NM_000530.8(MPZ):c.274G>A (p.Val92Met) rs267607245
NM_000530.8(MPZ):c.449-4C>T rs765343908
NM_000530.8(MPZ):c.646-3C>A rs750756212
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.74C>T (p.Ser25Phe) rs1553259827

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