ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006158.4(NEFL):c.-176C>A rs2979688 0.53692
NM_001136472.2(LITAF):c.*1251A>G rs7102 0.36899
NM_001136472.2(LITAF):c.*796T>C rs1198 0.18402
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_001136472.2(LITAF):c.-6+594A>G rs12921437 0.13319
NM_000530.8(MPZ):c.*761A>G rs16832786 0.13087
NM_000399.5(EGR2):c.*287T>A rs61865883 0.05337
NM_000399.5(EGR2):c.*874A>G rs61865882 0.05335
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133 0.04462
NM_001136472.2(LITAF):c.*1415C>A rs80119580 0.03674
NM_001136472.2(LITAF):c.*816T>A rs7187810 0.03432
NM_001136472.2(LITAF):c.*421C>T rs13336723 0.02660
NM_001136472.2(LITAF):c.*143C>T rs1801977 0.02394
NM_001136472.2(LITAF):c.*439G>A rs13337025 0.02310
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790 0.01850
NM_000530.8(MPZ):c.*624C>T rs60821801 0.01537
NM_001136472.2(LITAF):c.*711G>T rs117082330 0.01448
NM_001136472.2(LITAF):c.*1493T>G rs77423500 0.01358
NM_001136472.2(LITAF):c.*933C>T rs75472256 0.01353
NM_000530.8(MPZ):c.*568C>G rs60731755 0.01265
NM_001136472.2(LITAF):c.234G>A (p.Thr78=) rs9282774 0.00987
NM_000399.5(EGR2):c.*429G>A rs114237833 0.00979
NM_000399.5(EGR2):c.169+10G>T rs114201658 0.00953
NM_000530.8(MPZ):c.*195G>T rs150182811 0.00828
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297 0.00777
NM_000399.5(EGR2):c.*288G>A rs117395928 0.00758
NM_006158.5(NEFL):c.*1344G>A rs79034217 0.00743
NM_000530.8(MPZ):c.*1048A>T rs71639057 0.00663
NM_001136472.2(LITAF):c.*99C>T rs149712652 0.00476
NM_006158.5(NEFL):c.*101A>G rs34505194 0.00356
NM_006158.5(NEFL):c.*244A>G rs78869168 0.00290
NM_001136472.2(LITAF):c.333C>T (p.Ala111=) rs34448402 0.00256
NM_006158.5(NEFL):c.*82T>A rs148654058 0.00222
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn) rs57153321 0.00081
NM_006158.5(NEFL):c.639C>G (p.Ile213Met) rs62636522 0.00065
NM_006158.5(NEFL):c.*1293A>G rs573350915 0.00043
NM_006158.5(NEFL):c.*878A>G rs189452316 0.00034
NM_000530.8(MPZ):c.*743C>T rs140992541 0.00031
NM_001136472.2(LITAF):c.*1627G>A rs62022848 0.00025
NM_001136472.2(LITAF):c.*904G>A rs192766322 0.00024
NM_006158.5(NEFL):c.*1806T>C rs192937928 0.00021
NM_006158.5(NEFL):c.227T>C (p.Val76Ala) rs58907919 0.00013
NM_001136472.2(LITAF):c.*1632C>G rs74808365 0.00009
NM_001136472.2(LITAF):c.-6+558C>T rs528624227 0.00003
NM_001136472.2(LITAF):c.357C>T (p.Cys119=) rs549492447 0.00003
NM_000530.8(MPZ):c.*360C>G rs6682046
NM_001136472.2(LITAF):c.*453C>A rs192516633
NM_006158.4(NEFL):c.-183C>G rs62503766
NM_006158.5(NEFL):c.*486T>G rs562682645

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