List of variants in gene MPZ reported as uncertain significance by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 186

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HGVS	dbSNP	gnomAD frequency
NM_000530.8(MPZ):c.641G>A (p.Arg214Gln)	rs147718043	0.00023
NM_000530.8(MPZ):c.211G>A (p.Glu71Lys)	rs573007540	0.00004
NM_000530.8(MPZ):c.428C>T (p.Thr143Met)	rs750724650	0.00004
NM_000530.8(MPZ):c.454A>G (p.Thr152Ala)	rs764402416	0.00004
NM_000530.8(MPZ):c.317G>A (p.Arg106His)	rs145039212	0.00003
NM_000530.8(MPZ):c.530A>G (p.Tyr177Cys)	rs573456055	0.00003
NM_000530.8(MPZ):c.529T>A (p.Tyr177Asn)	rs758417016	0.00002
NM_000530.8(MPZ):c.547T>C (p.Trp183Arg)	rs753107323	0.00002
NM_000530.8(MPZ):c.731G>T (p.Arg244Leu)	rs749722729	0.00002
NM_000530.8(MPZ):c.116A>G (p.His39Arg)	rs371856018	0.00001
NM_000530.8(MPZ):c.16C>T (p.Pro6Ser)	rs765575997	0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met)	rs121913605	0.00001
NM_000530.8(MPZ):c.199C>T (p.Arg67Cys)	rs775361544	0.00001
NM_000530.8(MPZ):c.214G>T (p.Gly72Trp)	rs749459367	0.00001
NM_000530.8(MPZ):c.230T>C (p.Ile77Thr)	rs540599381	0.00001
NM_000530.8(MPZ):c.259C>T (p.Pro87Ser)	rs777338757	0.00001
NM_000530.8(MPZ):c.275T>A (p.Val92Glu)	rs1352220911	0.00001
NM_000530.8(MPZ):c.313C>A (p.Pro105Thr)	rs121913609	0.00001
NM_000530.8(MPZ):c.37A>G (p.Ile13Val)	rs145285010	0.00001
NM_000530.8(MPZ):c.385G>A (p.Val129Ile)	rs201156403	0.00001
NM_000530.8(MPZ):c.505G>T (p.Val169Leu)	rs776316386	0.00001
NM_000530.8(MPZ):c.532G>C (p.Val178Leu)	rs1238706311	0.00001
NM_000530.8(MPZ):c.542A>G (p.Tyr181Cys)	rs372051998	0.00001
NM_000530.8(MPZ):c.662C>T (p.Ala221Val)	rs1040557288	0.00001
NM_000530.8(MPZ):c.683G>A (p.Ser228Asn)	rs773002116	0.00001
NM_000530.8(MPZ):c.691G>A (p.Ala231Thr)	rs1471261466	0.00001
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr)	rs997633417	0.00001
NM_000530.8(MPZ):c.101C>G (p.Thr34Ser)	rs1571820317
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)	rs1571820317
NM_000530.8(MPZ):c.104A>G (p.Asp35Gly)	rs1553259811
NM_000530.8(MPZ):c.105C>A (p.Asp35Glu)
NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)	rs864622732
NM_000530.8(MPZ):c.107G>A (p.Arg36Lys)	rs1670288965
NM_000530.8(MPZ):c.108G>C (p.Arg36Ser)	rs1670288915
NM_000530.8(MPZ):c.109G>A (p.Glu37Lys)	rs1670288858
NM_000530.8(MPZ):c.10G>T (p.Gly4Trp)	rs1558155851
NM_000530.8(MPZ):c.128G>C (p.Gly43Ala)
NM_000530.8(MPZ):c.134G>A (p.Arg45Gln)	rs760227243
NM_000530.8(MPZ):c.136G>A (p.Val46Met)	rs1571820190
NM_000530.8(MPZ):c.136G>C (p.Val46Leu)	rs1571820190
NM_000530.8(MPZ):c.13G>T (p.Ala5Ser)
NM_000530.8(MPZ):c.140C>T (p.Thr47Ile)
NM_000530.8(MPZ):c.145C>A (p.His49Asn)
NM_000530.8(MPZ):c.151T>A (p.Ser51Thr)
NM_000530.8(MPZ):c.154T>G (p.Phe52Val)	rs1558154644
NM_000530.8(MPZ):c.159G>C (p.Trp53Cys)	rs1571820100
NM_000530.8(MPZ):c.159G>T (p.Trp53Cys)
NM_000530.8(MPZ):c.160T>G (p.Ser54Ala)	rs1553259785
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)	rs1571820067
NM_000530.8(MPZ):c.172G>T (p.Val58Phe)	rs1341175303
NM_000530.8(MPZ):c.173T>A (p.Val58Asp)	rs1571820049
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu)	rs879254297
NM_000530.8(MPZ):c.178G>A (p.Asp60Asn)
NM_000530.8(MPZ):c.178G>C (p.Asp60His)	rs121913604
NM_000530.8(MPZ):c.182A>T (p.Asp61Val)
NM_000530.8(MPZ):c.196T>C (p.Trp66Arg)	rs1060503421
NM_000530.8(MPZ):c.196T>G (p.Trp66Gly)
NM_000530.8(MPZ):c.209C>A (p.Pro70His)
NM_000530.8(MPZ):c.212A>G (p.Glu71Gly)
NM_000530.8(MPZ):c.213A>T (p.Glu71Asp)	rs1060503422
NM_000530.8(MPZ):c.215G>C (p.Gly72Ala)
NM_000530.8(MPZ):c.215G>T (p.Gly72Val)	rs773724920
NM_000530.8(MPZ):c.217G>T (p.Gly73Cys)	rs1670283272
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr)	rs2102259788
NM_000530.8(MPZ):c.232T>C (p.Ser78Pro)	rs2102259765
NM_000530.8(MPZ):c.234G>A (p.Ser78=)	rs368149365
NM_000530.8(MPZ):c.234G>T (p.Ser78=)
NM_000530.8(MPZ):c.235A>G (p.Ile79Val)
NM_000530.8(MPZ):c.242A>T (p.His81Leu)	rs121913594
NM_000530.8(MPZ):c.250A>G (p.Lys84Glu)
NM_000530.8(MPZ):c.257A>C (p.Gln86Pro)	rs1670269181
NM_000530.8(MPZ):c.263A>C (p.Tyr88Ser)	rs1553259700
NM_000530.8(MPZ):c.263A>G (p.Tyr88Cys)	rs1553259700
NM_000530.8(MPZ):c.266T>A (p.Ile89Asn)	rs267607244
NM_000530.8(MPZ):c.268G>A (p.Asp90Asn)	rs1558154208
NM_000530.8(MPZ):c.26G>A (p.Ser9Asn)
NM_000530.8(MPZ):c.274G>A (p.Val92Met)	rs267607245
NM_000530.8(MPZ):c.278G>T (p.Gly93Val)	rs1060503418
NM_000530.8(MPZ):c.283T>C (p.Phe95Leu)
NM_000530.8(MPZ):c.290A>T (p.Glu97Val)	rs121913606
NM_000530.8(MPZ):c.295A>C (p.Ile99Leu)	rs2102259152
NM_000530.8(MPZ):c.305T>A (p.Val102Glu)	rs2102259119
NM_000530.8(MPZ):c.305_310del (p.Val102_Gly103del)	rs1060503419
NM_000530.8(MPZ):c.310G>A (p.Asp104Asn)	rs777378929
NM_000530.8(MPZ):c.310G>T (p.Asp104Tyr)	rs777378929
NM_000530.8(MPZ):c.311A>G (p.Asp104Gly)	rs1670265880
NM_000530.8(MPZ):c.312C>A (p.Asp104Glu)	rs1670265812
NM_000530.8(MPZ):c.313C>T (p.Pro105Ser)	rs121913609
NM_000530.8(MPZ):c.323A>G (p.Lys108Arg)
NM_000530.8(MPZ):c.325G>C (p.Asp109His)	rs1060503420
NM_000530.8(MPZ):c.326A>G (p.Asp109Gly)	rs1670264965
NM_000530.8(MPZ):c.331T>C (p.Ser111Pro)	rs1553259664
NM_000530.8(MPZ):c.332C>A (p.Ser111Tyr)	rs1553259663
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)	rs281865126
NM_000530.8(MPZ):c.341T>A (p.Ile114Lys)
NM_000530.8(MPZ):c.342A>G (p.Ile114Met)	rs1571818994
NM_000530.8(MPZ):c.345C>A (p.His115Gln)	rs752484126
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)	rs281865130
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
NM_000530.8(MPZ):c.34C>G (p.Pro12Ala)
NM_000530.8(MPZ):c.350T>C (p.Leu117Pro)	rs2102258946
NM_000530.8(MPZ):c.350T>G (p.Leu117Arg)	rs2102258946
NM_000530.8(MPZ):c.362A>G (p.Asp121Gly)	rs1571818953
NM_000530.8(MPZ):c.364A>G (p.Asn122Asp)	rs1670263376
NM_000530.8(MPZ):c.368_369delinsCT (p.Gly123Ala)	rs878854030
NM_000530.8(MPZ):c.369C>T (p.Gly123=)
NM_000530.8(MPZ):c.370A>T (p.Thr124Ser)
NM_000530.8(MPZ):c.374T>C (p.Phe125Ser)
NM_000530.8(MPZ):c.377C>G (p.Thr126Ser)	rs1230674741
NM_000530.8(MPZ):c.379T>G (p.Cys127Gly)
NM_000530.8(MPZ):c.382G>C (p.Asp128His)	rs267607243
NM_000530.8(MPZ):c.382G>T (p.Asp128Tyr)	rs267607243
NM_000530.8(MPZ):c.385G>T (p.Val129Phe)
NM_000530.8(MPZ):c.386T>G (p.Val129Gly)	rs2102258829
NM_000530.8(MPZ):c.391A>C (p.Asn131His)	rs1571818826
NM_000530.8(MPZ):c.400G>A (p.Asp134Asn)	rs1553259647
NM_000530.8(MPZ):c.401A>C (p.Asp134Ala)	rs1571818775
NM_000530.8(MPZ):c.405_407del (p.Ile135_Val136delinsMet)	rs1553259646
NM_000530.8(MPZ):c.407T>A (p.Val136Glu)	rs1571818744
NM_000530.8(MPZ):c.407T>G (p.Val136Gly)	rs1571818744
NM_000530.8(MPZ):c.412A>C (p.Lys138Gln)	rs1571818721
NM_000530.8(MPZ):c.412A>G (p.Lys138Glu)	rs1571818721
NM_000530.8(MPZ):c.413A>C (p.Lys138Thr)
NM_000530.8(MPZ):c.415_417del (p.Thr139del)
NM_000530.8(MPZ):c.418T>C (p.Ser140Pro)
NM_000530.8(MPZ):c.424G>A (p.Val142Ile)
NM_000530.8(MPZ):c.424G>T (p.Val142Phe)	rs876661257
NM_000530.8(MPZ):c.426_431del (p.Thr143_Leu144del)
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)	rs121913603
NM_000530.8(MPZ):c.440T>G (p.Phe147Cys)	rs1670257659
NM_000530.8(MPZ):c.448+12G>T	rs2102258615
NM_000530.8(MPZ):c.448G>A (p.Val150Met)	rs1558153967
NM_000530.8(MPZ):c.448G>T (p.Val150Leu)
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)	rs754068936
NM_000530.8(MPZ):c.463G>A (p.Gly155Arg)
NM_000530.8(MPZ):c.466G>T (p.Val156Phe)	rs775916243
NM_000530.8(MPZ):c.474G>A (p.Leu158=)
NM_000530.8(MPZ):c.479C>G (p.Ala160Gly)
NM_000530.8(MPZ):c.486C>G (p.Ile162Met)	rs267607246
NM_000530.8(MPZ):c.488G>C (p.Gly163Ala)
NM_000530.8(MPZ):c.498C>A (p.Leu166=)	rs1224818819
NM_000530.8(MPZ):c.506_507delinsAC (p.Val169Asp)
NM_000530.8(MPZ):c.529T>C (p.Tyr177His)
NM_000530.8(MPZ):c.538C>G (p.Arg180Gly)	rs1385085988
NM_000530.8(MPZ):c.558G>T (p.Arg186Ser)
NM_000530.8(MPZ):c.566C>T (p.Ala189Val)	rs1268318757
NM_000530.8(MPZ):c.575G>A (p.Arg192Lys)
NM_000530.8(MPZ):c.584+3A>T	rs1670241598
NM_000530.8(MPZ):c.589A>G (p.Met197Val)	rs567817208
NM_000530.8(MPZ):c.590T>G (p.Met197Arg)
NM_000530.8(MPZ):c.592G>C (p.Glu198Gln)	rs770994564
NM_000530.8(MPZ):c.595A>G (p.Lys199Glu)	rs879254142
NM_000530.8(MPZ):c.599G>A (p.Gly200Glu)
NM_000530.8(MPZ):c.610A>G (p.Lys204Glu)	rs1064796625
NM_000530.8(MPZ):c.612G>C (p.Lys204Asn)	rs1670234637
NM_000530.8(MPZ):c.614C>T (p.Pro205Leu)
NM_000530.8(MPZ):c.618A>T (p.Gly206=)
NM_000530.8(MPZ):c.641G>T (p.Arg214Leu)
NM_000530.8(MPZ):c.645G>A (p.Gln215=)	rs1670232790
NM_000530.8(MPZ):c.646-10_650del	rs863225026
NM_000530.8(MPZ):c.646-16_654dup
NM_000530.8(MPZ):c.646-2A>G	rs1670228122
NM_000530.8(MPZ):c.646-3C>A	rs750756212
NM_000530.8(MPZ):c.646-5C>A	rs201115971
NM_000530.8(MPZ):c.646A>G (p.Thr216Ala)
NM_000530.8(MPZ):c.649C>G (p.Pro217Ala)	rs281865132
NM_000530.8(MPZ):c.67+4A>G	rs1571822765
NM_000530.8(MPZ):c.67+5G>T	rs1670359056
NM_000530.8(MPZ):c.67G>A (p.Val23Met)
NM_000530.8(MPZ):c.68-11T>C
NM_000530.8(MPZ):c.68-3C>A	rs1182729605
NM_000530.8(MPZ):c.68-3C>T
NM_000530.8(MPZ):c.68-5T>G	rs1553259835
NM_000530.8(MPZ):c.685A>G (p.Thr229Ala)
NM_000530.8(MPZ):c.703A>G (p.Lys235Glu)	rs2102257203
NM_000530.8(MPZ):c.704A>G (p.Lys235Arg)	rs1670224859
NM_000530.8(MPZ):c.714G>C (p.Lys238Asn)
NM_000530.8(MPZ):c.722G>C (p.Gly241Ala)	rs775575673
NM_000530.8(MPZ):c.728C>T (p.Ser243Phe)
NM_000530.8(MPZ):c.742A>G (p.Lys248Glu)
NM_000530.8(MPZ):c.745T>C (p.Ter249Gln)	rs1670223250
NM_000530.8(MPZ):c.79G>C (p.Ala27Pro)
NM_000530.8(MPZ):c.88A>C (p.Ile30Leu)	rs1386345719
NM_000530.8(MPZ):c.88A>G (p.Ile30Val)	rs1386345719
NM_000530.8(MPZ):c.95T>G (p.Val32Gly)	rs1670289570
NM_000530.8(MPZ):c.98A>T (p.Tyr33Phe)	rs771372609

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