ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 2B

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_004637.6(RAB7A):c.552C>T (p.Asn184=) rs143140848 0.00011
NM_004637.6(RAB7A):c.603G>A (p.Ser201=) rs61748098 0.00011
NM_004637.6(RAB7A):c.213G>A (p.Gln71=) rs140299645 0.00007
NM_004637.6(RAB7A):c.*1141C>T rs192329045 0.00006
NM_004637.6(RAB7A):c.180+9A>G rs762831187 0.00006
NM_004637.6(RAB7A):c.205C>A (p.Arg69=) rs963655960 0.00006
NM_004637.6(RAB7A):c.54-20T>C rs370926984 0.00004
NM_004637.6(RAB7A):c.503C>T (p.Thr168Met) rs141978327 0.00003
NM_004637.6(RAB7A):c.54-17T>C rs1057523037 0.00003
NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser) rs752824265 0.00003
NM_004637.6(RAB7A):c.183A>C (p.Ile61=) rs376642691 0.00002
NM_004637.6(RAB7A):c.504G>A (p.Thr168=) rs929339942 0.00002
NM_004637.6(RAB7A):c.529-14G>C rs773589267 0.00002
NM_004637.6(RAB7A):c.6C>G (p.Thr2=) rs1053225393 0.00002
NM_004637.6(RAB7A):c.174A>G (p.Thr58=) rs1933611219 0.00001
NM_004637.6(RAB7A):c.18A>G (p.Lys6=) rs1183281292 0.00001
NM_004637.6(RAB7A):c.21G>A (p.Val7=) rs140857794 0.00001
NM_004637.6(RAB7A):c.252C>T (p.Cys84=) rs778176566 0.00001
NM_004637.6(RAB7A):c.321C>T (p.Leu107=) rs749227632 0.00001
NM_004637.6(RAB7A):c.400-10C>T rs756353516 0.00001
NM_004637.6(RAB7A):c.543G>A (p.Glu181=) rs887111279 0.00001
NM_004637.6(RAB7A):c.*1026G>A rs376185459
NM_004637.6(RAB7A):c.138G>C (p.Leu46=)
NM_004637.6(RAB7A):c.180+7A>G rs1235702497
NM_004637.6(RAB7A):c.181-4A>T rs1576303639
NM_004637.6(RAB7A):c.181-9C>T
NM_004637.6(RAB7A):c.249C>T (p.Cys83=)
NM_004637.6(RAB7A):c.294C>G (p.Thr98=)
NM_004637.6(RAB7A):c.300T>C (p.Asp100=)
NM_004637.6(RAB7A):c.357A>G (p.Pro119=) rs1576303724
NM_004637.6(RAB7A):c.366G>T (p.Val122=)
NM_004637.6(RAB7A):c.375C>T (p.Asn125=) rs2107615696
NM_004637.6(RAB7A):c.399+12C>T
NM_004637.6(RAB7A):c.399+14A>G
NM_004637.6(RAB7A):c.399+17A>C
NM_004637.6(RAB7A):c.399+19A>G rs2107615708
NM_004637.6(RAB7A):c.400-11T>G
NM_004637.6(RAB7A):c.400-13CTT[2]
NM_004637.6(RAB7A):c.400-15T>G
NM_004637.6(RAB7A):c.400-16C>G
NM_004637.6(RAB7A):c.400-17C>G rs762146227
NM_004637.6(RAB7A):c.400-6T>C
NM_004637.6(RAB7A):c.414G>T (p.Arg138=) rs754928233
NM_004637.6(RAB7A):c.528+20C>T
NM_004637.6(RAB7A):c.528+9C>T rs766544504
NM_004637.6(RAB7A):c.529-20T>G
NM_004637.6(RAB7A):c.529-6G>A rs2107618412
NM_004637.6(RAB7A):c.53+14G>T
NM_004637.6(RAB7A):c.53+7T>C rs1933544756
NM_004637.6(RAB7A):c.53+9C>G
NM_004637.6(RAB7A):c.531A>G (p.Glu177=) rs2107618413
NM_004637.6(RAB7A):c.534G>A (p.Thr178=) rs766818777
NM_004637.6(RAB7A):c.54-9C>T
NM_004637.6(RAB7A):c.57C>T (p.Val19=)
NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly) rs745507763
NM_004637.6(RAB7A):c.591G>C (p.Arg197=)
NM_004637.6(RAB7A):c.603G>C (p.Ser201=) rs61748098
NM_004637.6(RAB7A):c.621C>T (p.Cys207=)
NM_004637.6(RAB7A):c.99C>T (p.Phe33=)

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