List of variants in gene MPI reported as likely pathogenic by Counsyl

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)	rs104894489	0.00021
NM_002435.3(MPI):c.487+2del	rs1057516550	0.00002
NM_002435.3(MPI):c.13C>T (p.Arg5Ter)	rs1452559752	0.00001
NM_002435.3(MPI):c.488-1G>C	rs759579169	0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter)	rs1057516424	0.00001
NM_002435.3(MPI):c.-1_3del (p.Met1fs)	rs1555478015
NM_002435.3(MPI):c.120del (p.Ile40fs)	rs1057516466
NM_002435.3(MPI):c.145-1G>A	rs1057516573
NM_002435.3(MPI):c.166dup (p.Arg56fs)	rs786204593
NM_002435.3(MPI):c.345+1G>A	rs1555478333
NM_002435.3(MPI):c.488-1G>A	rs759579169
NM_002435.3(MPI):c.535del (p.His178_Leu179insTer)	rs1555478582
NM_002435.3(MPI):c.629del (p.Val210fs)	rs1555478606
NM_002435.3(MPI):c.727C>T (p.Gln243Ter)	rs749911553
NM_002435.3(MPI):c.740del (p.Gly247fs)	rs1057517115
NM_002435.3(MPI):c.802_803del (p.Met268fs)	rs1555479227
NM_002435.3(MPI):c.844+1G>A	rs1394866894
NM_002435.3(MPI):c.845-2del	rs1555479341
NM_002435.3(MPI):c.880dup (p.Val294fs)	rs1555479351
NM_002435.3(MPI):c.89_113del (p.Leu30fs)	rs1555478118

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