ClinVar Miner

List of variants in gene LOC112872299, RAB7A studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
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Total variants: 27
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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.568A>G (p.Ile190Val) rs147480945 0.00004
NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser) rs752824265 0.00003
NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu) rs866854462 0.00003
NM_004637.6(RAB7A):c.529-14G>C rs773589267 0.00002
NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn) rs756968558 0.00002
NM_004637.6(RAB7A):c.533C>T (p.Thr178Met) rs142747565 0.00001
NM_004637.6(RAB7A):c.543G>A (p.Glu181=) rs887111279 0.00001
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln) rs779472408 0.00001
NM_004637.6(RAB7A):c.529-11T>G rs1363669325
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.544C>A (p.Leu182Met)
NM_004637.6(RAB7A):c.544C>G (p.Leu182Val)
NM_004637.6(RAB7A):c.570C>G (p.Ile190Met)
NM_004637.6(RAB7A):c.572A>G (p.Lys191Arg) rs2107618433
NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly) rs745507763
NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp) rs745507763
NM_004637.6(RAB7A):c.591G>C (p.Arg197=)
NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)
NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser) rs748832566
NM_004637.6(RAB7A):c.603G>C (p.Ser201=) rs61748098
NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly) rs2107618449
NM_004637.6(RAB7A):c.621C>T (p.Cys207=)

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