ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2B by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004637.6(RAB7A):c.*863C>G rs59753334 0.06155
NM_004637.6(RAB7A):c.*189A>G rs11549750 0.05501
NM_004637.6(RAB7A):c.219C>T (p.Leu73=) rs4548 0.04279
NM_004637.6(RAB7A):c.*181G>A rs3206306 0.03706
NM_004637.6(RAB7A):c.*997T>C rs3755593 0.03614
NM_004637.6(RAB7A):c.*183A>G rs774054837 0.03357
NM_004637.6(RAB7A):c.*206G>A rs16851333 0.01808
NM_004637.6(RAB7A):c.-97C>G rs141622970 0.01485
NM_004637.6(RAB7A):c.-29G>T rs112000804 0.01334
NM_004637.6(RAB7A):c.*163T>G rs182521602 0.00395
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_004637.6(RAB7A):c.*85A>G rs549333234 0.00085
NM_004637.6(RAB7A):c.*274G>A rs565849348 0.00083
NM_004637.6(RAB7A):c.87G>A (p.Val29=) rs145441548 0.00039
NM_004637.6(RAB7A):c.*625T>C rs545004919 0.00025
NM_004637.5(RAB7A):c.-215C>T rs560785742 0.00022
NM_004637.6(RAB7A):c.*402T>A rs950767971 0.00021
NM_004637.6(RAB7A):c.552C>T (p.Asn184=) rs143140848 0.00011
NM_004637.6(RAB7A):c.*1142G>A rs747470481 0.00009
NM_004637.6(RAB7A):c.*989C>G rs1039323764 0.00009
NM_004637.6(RAB7A):c.-115C>T rs374777610 0.00009
NM_004637.6(RAB7A):c.*165A>T rs886057942 0.00007
NM_004637.6(RAB7A):c.*1029A>G rs776759455 0.00006
NM_004637.6(RAB7A):c.*1141C>T rs192329045 0.00006
NM_004637.6(RAB7A):c.*1301A>G rs182528613 0.00004
NM_004637.6(RAB7A):c.*956G>A rs1421148594 0.00004
NM_004637.6(RAB7A):c.-18A>G rs886057941 0.00004
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) rs147480945 0.00004
NM_004637.6(RAB7A):c.*1344G>A rs763557372 0.00003
NM_004637.6(RAB7A):c.*1374G>A rs539522952 0.00003
NM_004637.6(RAB7A):c.*1343C>T rs576597041 0.00002
NM_004637.6(RAB7A):c.*702T>G rs886057947 0.00002
NM_004637.6(RAB7A):c.*831A>G rs1432428820 0.00001
NM_004637.5(RAB7A):c.-204G>T rs886057938
NM_004637.6(RAB7A):c.*1026G>A rs376185459
NM_004637.6(RAB7A):c.*1079C>T rs141066124
NM_004637.6(RAB7A):c.*1161C>T rs886057952
NM_004637.6(RAB7A):c.*1219C>T rs1036501286
NM_004637.6(RAB7A):c.*229C>T rs147244704
NM_004637.6(RAB7A):c.*317A>G rs1933980298
NM_004637.6(RAB7A):c.*473G>C rs886057945
NM_004637.6(RAB7A):c.*700C>T rs886057946
NM_004637.6(RAB7A):c.*819C>A rs772662283
NM_004637.6(RAB7A):c.*846A>G rs532629721
NM_004637.6(RAB7A):c.*908A>C rs546868558
NM_004637.6(RAB7A):c.*922A>G rs886057949
NM_004637.6(RAB7A):c.*929A>T rs886057950
NM_004637.6(RAB7A):c.*974A>G rs1933994920
NM_004637.6(RAB7A):c.*997T>G rs3755593
NM_004637.6(RAB7A):c.-146G>C rs1044292082
NM_004637.6(RAB7A):c.-154G>A rs886057939
NM_004637.6(RAB7A):c.-61G>A rs2070377358
NM_004637.6(RAB7A):c.277C>T (p.Pro93Ser) rs11549756
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu) rs1933833236
NM_004637.6(RAB7A):c.54-15T>C rs748552184

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.