ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NC_000008.11:g.24956698G>C
NM_000399.5(EGR2):c.*287T>A rs61865883
NM_000399.5(EGR2):c.*288G>A rs117395928
NM_000399.5(EGR2):c.*429G>A rs114237833
NM_000399.5(EGR2):c.*874A>G rs61865882
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.169+10G>T rs114201658
NM_000530.8(MPZ):c.*1048A>T rs71639057
NM_000530.8(MPZ):c.*195G>T rs150182811
NM_000530.8(MPZ):c.*360C>G
NM_000530.8(MPZ):c.*568C>G rs60731755
NM_000530.8(MPZ):c.*624C>T rs60821801
NM_000530.8(MPZ):c.*743C>T rs140992541
NM_000530.8(MPZ):c.*761A>G rs16832786
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_001136473.1(LITAF):c.*1029G>A rs192766322
NM_001136473.1(LITAF):c.*1058C>T rs75472256
NM_001136473.1(LITAF):c.*1376A>G rs7102
NM_001136473.1(LITAF):c.*1540C>A rs80119580
NM_001136473.1(LITAF):c.*1618T>G rs77423500
NM_001136473.1(LITAF):c.*1752G>A rs62022848
NM_001136473.1(LITAF):c.*1757C>G
NM_001136473.1(LITAF):c.*224C>T rs149712652
NM_001136473.1(LITAF):c.*268C>T rs1801977
NM_001136473.1(LITAF):c.*546C>T rs13336723
NM_001136473.1(LITAF):c.*564G>A rs13337025
NM_001136473.1(LITAF):c.*578C>A rs192516633
NM_001136473.1(LITAF):c.*836G>T rs117082330
NM_001136473.1(LITAF):c.*921T>C rs1198
NM_001136473.1(LITAF):c.*941T>A rs7187810
NM_001136473.1(LITAF):c.-6+558C>T rs528624227
NM_001136473.1(LITAF):c.-6+594A>G rs12921437
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_006158.4(NEFL):c.*101A>G rs34505194
NM_006158.4(NEFL):c.*1344G>A rs79034217
NM_006158.4(NEFL):c.*1806T>C rs192937928
NM_006158.4(NEFL):c.*244A>G rs78869168
NM_006158.4(NEFL):c.*486T>G rs562682645
NM_006158.4(NEFL):c.*82T>A rs148654058
NM_006158.4(NEFL):c.*878A>G rs189452316
NM_006158.4(NEFL):c.-176C>A rs2979688
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.5(NEFL):c.*1293A>G
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297

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