ClinVar Miner

List of variants in gene RAB7A studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NC_000003.12:g.(?_128795358)_(128813432_?)dup
NM_004637.5(RAB7A):c.*1029A>G rs776759455
NM_004637.5(RAB7A):c.*1142G>A rs747470481
NM_004637.5(RAB7A):c.*1161C>T rs886057952
NM_004637.5(RAB7A):c.*1301A>G rs182528613
NM_004637.5(RAB7A):c.*1374G>A rs539522952
NM_004637.5(RAB7A):c.*163T>G rs182521602
NM_004637.5(RAB7A):c.*165A>T rs886057942
NM_004637.5(RAB7A):c.*181G>A rs3206306
NM_004637.5(RAB7A):c.*183A>G rs774054837
NM_004637.5(RAB7A):c.*189A>G rs11549750
NM_004637.5(RAB7A):c.*206G>A rs16851333
NM_004637.5(RAB7A):c.*473G>C rs886057945
NM_004637.5(RAB7A):c.*625T>C rs545004919
NM_004637.5(RAB7A):c.*700C>T rs886057946
NM_004637.5(RAB7A):c.*702T>G rs886057947
NM_004637.5(RAB7A):c.*85A>G rs549333234
NM_004637.5(RAB7A):c.*863C>G rs59753334
NM_004637.5(RAB7A):c.*922A>G rs886057949
NM_004637.5(RAB7A):c.*929A>T rs886057950
NM_004637.5(RAB7A):c.*997T>C rs3755593
NM_004637.5(RAB7A):c.*997T>G rs3755593
NM_004637.5(RAB7A):c.-115C>T rs374777610
NM_004637.5(RAB7A):c.-154G>A rs886057939
NM_004637.5(RAB7A):c.-18A>G rs886057941
NM_004637.5(RAB7A):c.-204G>T rs886057938
NM_004637.5(RAB7A):c.-215C>T rs560785742
NM_004637.5(RAB7A):c.-29G>T rs112000804
NM_004637.5(RAB7A):c.-97C>G rs141622970
NM_004637.5(RAB7A):c.167T>C (p.Leu56Pro) rs775104487
NM_004637.5(RAB7A):c.180+9A>G rs762831187
NM_004637.5(RAB7A):c.183A>C (p.Ile61=) rs376642691
NM_004637.5(RAB7A):c.213G>A (p.Gln71=) rs140299645
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004637.5(RAB7A):c.21G>A (p.Val7=) rs140857794
NM_004637.5(RAB7A):c.277C>T (p.Pro93Ser) rs11549756
NM_004637.5(RAB7A):c.321C>T (p.Leu107=) rs749227632
NM_004637.5(RAB7A):c.385C>T (p.Leu129Phe) rs121909078
NM_004637.5(RAB7A):c.414G>T (p.Arg138=) rs754928233
NM_004637.5(RAB7A):c.423C>G (p.Ala141=) rs61758751
NM_004637.5(RAB7A):c.471G>C (p.Lys157Asn) rs121909081
NM_004637.5(RAB7A):c.482A>C (p.Asn161Thr) rs121909080
NM_004637.5(RAB7A):c.482A>T (p.Asn161Ile) rs121909080
NM_004637.5(RAB7A):c.484G>A (p.Val162Met) rs121909079
NM_004637.5(RAB7A):c.495G>A (p.Ala165=) rs146566121
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004637.6(RAB7A):c.*1026G>A
NM_004637.6(RAB7A):c.*1079C>T
NM_004637.6(RAB7A):c.*1141C>T
NM_004637.6(RAB7A):c.*1219C>T
NM_004637.6(RAB7A):c.*1343C>T
NM_004637.6(RAB7A):c.*1344G>A
NM_004637.6(RAB7A):c.*229C>T
NM_004637.6(RAB7A):c.*274G>A
NM_004637.6(RAB7A):c.*317A>G
NM_004637.6(RAB7A):c.*402T>A
NM_004637.6(RAB7A):c.*819C>A
NM_004637.6(RAB7A):c.*831A>G
NM_004637.6(RAB7A):c.*846A>G
NM_004637.6(RAB7A):c.*908A>C
NM_004637.6(RAB7A):c.*956G>A
NM_004637.6(RAB7A):c.*974A>G
NM_004637.6(RAB7A):c.*989C>G
NM_004637.6(RAB7A):c.-146G>C
NM_004637.6(RAB7A):c.-61G>A
NM_004637.6(RAB7A):c.148G>A (p.Val50Met)
NM_004637.6(RAB7A):c.180+7A>G rs1235702497
NM_004637.6(RAB7A):c.181-3C>T
NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly)
NM_004637.6(RAB7A):c.331del (p.Ser111fs) rs1576303712
NM_004637.6(RAB7A):c.400-17C>G
NM_004637.6(RAB7A):c.456T>G (p.Phe152Leu)
NM_004637.6(RAB7A):c.471G>T (p.Lys157Asn)
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser)
NM_004637.6(RAB7A):c.54-15T>C

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.