ClinVar Miner

List of variants in gene combination LOC112872299, RAB7A reported as uncertain significance for Charcot-Marie-Tooth disease type 2B

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) rs147480945 0.00004
NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu) rs866854462 0.00003
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.590G>A (p.Arg197Gln) rs779472408 0.00001
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>T (p.Arg197Trp) rs745507763
NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)
NM_004637.6(RAB7A):c.592G>T (p.Ala198Ser) rs748832566
NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly) rs2107618449

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