Variants with conflicting interpretations "uncertain significance" from Inherited Neuropathy Consortium and "likely pathogenic" from any submitter

Minimum review status of the submission from Inherited Neuropathy Consortium:		Collection method of the submission from Inherited Neuropathy Consortium:
Minimum review status of the other submission:		Collection method of the other submission:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	rs121918054	0.00096
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr)	rs144860227	0.00032
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu)	rs200728983	0.00003
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn)	rs768834663	0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr)	rs572010627	0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His)	rs780953863	0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)	rs538412810	0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys)	rs759785462	0.00001
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys)	rs1555937009
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe)	rs1602348662
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys)	rs1597597627
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)	rs797044941
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)	rs1571818632
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del)	rs755446743
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)	rs724159994
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn)	rs690016543
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys)	rs587777875
NM_181882.3(PRX):c.3198del (p.Phe1066fs)	rs1599651549

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.