ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 2E by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006158.5(NEFL):c.1170-13T>C rs76347846 0.08329
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_006158.5(NEFL):c.1275C>T (p.Gly425=) rs114329068 0.00395
NM_006158.5(NEFL):c.855C>T (p.Thr285=) rs1065083 0.00221
NM_006158.5(NEFL):c.1026C>G (p.Ala342=) rs35596950 0.00189
NM_006158.5(NEFL):c.1044+20A>T rs373892107 0.00062
NM_006158.5(NEFL):c.1059A>G (p.Lys353=) rs190841835 0.00054
NM_006158.5(NEFL):c.1329C>T (p.Tyr443=) rs140532785 0.00016
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 0.00013
NM_006158.5(NEFL):c.1560C>A (p.Thr520=) rs267607677 0.00010
NM_006158.5(NEFL):c.1212C>T (p.Ser404=) rs60547413 0.00008
NM_006158.5(NEFL):c.1573GAG[2] (p.Glu527del) rs3832558
NM_006158.5(NEFL):c.582A>C (p.Glu194Asp) rs532240912

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