ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 1

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_000399.5(EGR2):c.-1A>G rs553201646
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_001136473.1(LITAF):c.*1978A>G rs759832566
NM_001136473.1(LITAF):c.*50C>T rs748118642
NM_001136473.1(LITAF):c.108T>G (p.Pro36=) rs140990446
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) rs145659732
NM_001136473.1(LITAF):c.179C>T (p.Ser60Leu) rs765644026
NM_001136473.1(LITAF):c.240C>T (p.Tyr80=) rs149184234
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) rs201653834
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_001136473.1(LITAF):c.32C>T (p.Thr11Ile) rs200702853
NM_001136473.1(LITAF):c.330C>T (p.Asn110=) rs139116481
NM_001136473.1(LITAF):c.351G>C (p.Leu117=) rs372220196
NM_001136473.1(LITAF):c.377+13C>G rs200357430
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.45A>G (p.Ser15=) rs112192052
NM_001136473.1(LITAF):c.51A>G (p.Pro17=) rs751525365
NM_001136473.1(LITAF):c.54C>T (p.Ser18=) rs150211233
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.5(NEFL):c.*436T>G
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
NM_006158.5(NEFL):c.558G>A (p.Glu186=)

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