ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Inherited Neuropathy Consortium and "likely benign" 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:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_006158.5(NEFL):c.279G>A (p.Gln93=) rs60737254 0.00002
NM_000166.6(GJB1):c.462T>C (p.Tyr154=) rs879254098 0.00001
NM_000304.4(PMP22):c.327C>T (p.Cys109=) rs863225028 0.00001
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084

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