ClinVar Miner

List of variants in gene MPZ reported by Athena Diagnostics Inc

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly) rs1553259811
NM_000530.8(MPZ):c.106A>T (p.Arg36Trp) rs864622732
NM_000530.8(MPZ):c.116A>C (p.His39Pro) rs371856018
NM_000530.8(MPZ):c.155_157del (p.Phe52del) rs1553259786
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) rs121913585
NM_000530.8(MPZ):c.193A>G (p.Thr65Ala) rs1553259760
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys) rs573007540
NM_000530.8(MPZ):c.233C>T (p.Ser78Leu) rs121913601
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.270C>A (p.Asp90Glu) rs121913584
NM_000530.8(MPZ):c.292C>T (p.Arg98Cys) rs121913590
NM_000530.8(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.8(MPZ):c.293G>C (p.Arg98Pro) rs121913589
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter) rs1558154149
NM_000530.8(MPZ):c.317G>C (p.Arg106Pro) rs145039212
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.8(MPZ):c.410G>A (p.Gly137Asp) rs863225025
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.449-4C>T rs765343908
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.646dup (p.Thr216fs) rs1553259511
NM_000530.8(MPZ):c.67+1G>A rs1553260014
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr) rs997633417
NM_000530.8(MPZ):c.74C>T (p.Ser25Phe) rs1553259827
NM_000530.8(MPZ):c.77del (p.Pro26fs) rs1558154754
NM_000530.8(MPZ):c.90C>G (p.Ile30Met) rs770546306

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