ClinVar Miner

List of variants in gene combination LOC112872299, RAB7A reported as likely benign for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (92):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
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.551A>G (p.Asn184Ser) rs752824265 0.00003
NM_004637.6(RAB7A):c.529-14G>C rs773589267 0.00002
NM_004637.6(RAB7A):c.543G>A (p.Glu181=) rs887111279 0.00001
NM_004637.6(RAB7A):c.529-20T>G
NM_004637.6(RAB7A):c.529-6G>A rs2107618412
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.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=)

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