ClinVar Miner

List of variants in gene MPZ reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) rs200151353 0.00051
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.270C>T (p.Asp90=) rs121913584 0.00010
NM_000530.8(MPZ):c.429G>T (p.Thr143=) rs138007992 0.00010
NM_000530.8(MPZ):c.384C>T (p.Asp128=) rs772611598 0.00006
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.234+16A>T rs1352578591 0.00003
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_000530.8(MPZ):c.449-9C>T rs750530042 0.00002
NM_000530.8(MPZ):c.543C>T (p.Tyr181=) rs140671661 0.00002
NM_000530.8(MPZ):c.708G>A (p.Lys236=) rs768913825 0.00002
NM_000530.8(MPZ):c.102C>T (p.Thr34=) rs749600926 0.00001
NM_000530.8(MPZ):c.162C>A (p.Ser54=) rs373911573 0.00001
NM_000530.8(MPZ):c.279G>A (p.Gly93=) rs778303597 0.00001
NM_000530.8(MPZ):c.297C>A (p.Ile99=) rs770430402 0.00001
NM_000530.8(MPZ):c.297C>T (p.Ile99=) rs770430402 0.00001
NM_000530.8(MPZ):c.354C>T (p.Asp118=) rs780896055 0.00001
NM_000530.8(MPZ):c.372G>A (p.Thr124=) rs536830537 0.00001
NM_000530.8(MPZ):c.449-10C>T rs200559887 0.00001
NM_000530.8(MPZ):c.483G>C (p.Val161=) rs769244921 0.00001
NM_000530.8(MPZ):c.585-12C>G rs375616364 0.00001
NM_000530.8(MPZ):c.585-5T>C rs1026836999 0.00001
NM_000530.8(MPZ):c.645+12T>C rs750848798 0.00001
NM_000530.8(MPZ):c.646-7C>T rs377495735 0.00001
NM_000530.8(MPZ):c.663A>G (p.Ala221=) rs1404344759 0.00001
NM_000530.8(MPZ):c.67+10G>A rs1252695545 0.00001
NM_000530.8(MPZ):c.78G>C (p.Pro26=) rs777790314 0.00001
NM_000530.8(MPZ):c.114C>G (p.Val38=) rs1571820275
NM_000530.8(MPZ):c.142C>T (p.Leu48=)
NM_000530.8(MPZ):c.168G>A (p.Glu56=) rs757135674
NM_000530.8(MPZ):c.18C>T (p.Pro6=)
NM_000530.8(MPZ):c.195C>G (p.Thr65=)
NM_000530.8(MPZ):c.201C>T (p.Arg67=) rs1571819920
NM_000530.8(MPZ):c.216G>A (p.Gly72=) rs1303858319
NM_000530.8(MPZ):c.216G>C (p.Gly72=) rs1303858319
NM_000530.8(MPZ):c.234+12G>A
NM_000530.8(MPZ):c.234+13G>A
NM_000530.8(MPZ):c.234+14G>A
NM_000530.8(MPZ):c.243C>T (p.His81=) rs1571819354
NM_000530.8(MPZ):c.271G>A (p.Glu91Lys) rs1383238492
NM_000530.8(MPZ):c.282C>T (p.Thr94=)
NM_000530.8(MPZ):c.333C>T (p.Ser111=) rs2102258993
NM_000530.8(MPZ):c.378T>C (p.Thr126=)
NM_000530.8(MPZ):c.42G>A (p.Leu14=) rs1670359930
NM_000530.8(MPZ):c.448+10G>A rs1224416223
NM_000530.8(MPZ):c.448+13A>T
NM_000530.8(MPZ):c.448+17G>A rs1172824315
NM_000530.8(MPZ):c.448+19A>G
NM_000530.8(MPZ):c.449-14C>T
NM_000530.8(MPZ):c.472C>T (p.Leu158=)
NM_000530.8(MPZ):c.474G>C (p.Leu158=)
NM_000530.8(MPZ):c.489G>A (p.Gly163=)
NM_000530.8(MPZ):c.49C>T (p.Leu17=) rs2102262770
NM_000530.8(MPZ):c.552A>G (p.Leu184=)
NM_000530.8(MPZ):c.555C>T (p.Arg185=)
NM_000530.8(MPZ):c.577A>C (p.Arg193=)
NM_000530.8(MPZ):c.584+10G>C rs946514874
NM_000530.8(MPZ):c.584+16dup
NM_000530.8(MPZ):c.584+18G>C
NM_000530.8(MPZ):c.584+8G>A
NM_000530.8(MPZ):c.585-15T>C
NM_000530.8(MPZ):c.585-19G>A rs1558153528
NM_000530.8(MPZ):c.585-7_585-5del rs770501358
NM_000530.8(MPZ):c.585-8T>A
NM_000530.8(MPZ):c.585-8T>C rs1571817654
NM_000530.8(MPZ):c.597G>A (p.Lys199=) rs777928293
NM_000530.8(MPZ):c.606G>A (p.Leu202=)
NM_000530.8(MPZ):c.645+10A>G rs1670232533
NM_000530.8(MPZ):c.646-12C>A
NM_000530.8(MPZ):c.646-20T>G
NM_000530.8(MPZ):c.646-5C>G rs201115971
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.648G>A (p.Thr216=)
NM_000530.8(MPZ):c.648G>C (p.Thr216=)
NM_000530.8(MPZ):c.648G>T (p.Thr216=) rs755728895
NM_000530.8(MPZ):c.654G>A (p.Val218=) rs1571817228
NM_000530.8(MPZ):c.655C>T (p.Leu219=) rs1571817225
NM_000530.8(MPZ):c.67+15T>A
NM_000530.8(MPZ):c.687C>T (p.Thr229=)
NM_000530.8(MPZ):c.738T>C (p.Asp246=) rs1571816986
NM_000530.8(MPZ):c.75C>T (p.Ser25=)
NM_000530.8(MPZ):c.78G>A (p.Pro26=)
NM_000530.8(MPZ):c.90C>T (p.Ile30=)

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