ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 2B by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro) rs775104487 0.00003
NM_004637.6(RAB7A):c.506T>C (p.Ile169Thr) rs375630134 0.00003
NM_004637.6(RAB7A):c.568A>G (p.Ile190Val) rs147480945 0.00003
NM_004637.6(RAB7A):c.602C>T (p.Ser201Leu) rs866854462 0.00003
NM_004637.6(RAB7A):c.508G>A (p.Ala170Thr) rs750766845 0.00002
NM_004637.6(RAB7A):c.577G>A (p.Asp193Asn) rs756968558 0.00002
NM_004637.6(RAB7A):c.152T>C (p.Met51Thr) rs769771992 0.00001
NM_004637.6(RAB7A):c.481A>G (p.Asn161Asp) rs963894786 0.00001
NM_004637.6(RAB7A):c.482A>G (p.Asn161Ser) rs121909080 0.00001
NM_004637.6(RAB7A):c.489G>C (p.Glu163Asp) rs200290674 0.00001
NM_004637.6(RAB7A):c.533C>T (p.Thr178Met) rs142747565 0.00001
NM_004637.6(RAB7A):c.544C>A (p.Leu182Met) rs140685176 0.00001
NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln) rs779472408 0.00001
NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr) rs748832566 0.00001
NM_004637.6(RAB7A):c.89A>G (p.Asn30Ser) rs201407628 0.00001
NC_000003.11:g.(?_128514201)_(128631967_?)dup
NM_004637.6(RAB7A):c.148G>A (p.Val50Met) rs1933610846
NM_004637.6(RAB7A):c.151A>G (p.Met51Val) rs1228959786
NM_004637.6(RAB7A):c.179A>G (p.Gln60Arg)
NM_004637.6(RAB7A):c.180+4A>T rs1933611370
NM_004637.6(RAB7A):c.181-3C>T rs1411160897
NM_004637.6(RAB7A):c.206G>A (p.Arg69Gln)
NM_004637.6(RAB7A):c.311A>G (p.Asp104Gly) rs2529138401
NM_004637.6(RAB7A):c.351C>G (p.Asn117Lys) rs1933806674
NM_004637.6(RAB7A):c.377A>G (p.Lys126Arg) rs1933806941
NM_004637.6(RAB7A):c.403G>A (p.Ala135Thr) rs368804888
NM_004637.6(RAB7A):c.421G>A (p.Ala141Thr) rs201399896
NM_004637.6(RAB7A):c.434G>A (p.Ser145Asn) rs2107616079
NM_004637.6(RAB7A):c.448C>A (p.Pro150Thr) rs1320514833
NM_004637.6(RAB7A):c.464G>A (p.Ser155Asn) rs2529141270
NM_004637.6(RAB7A):c.467C>G (p.Ala156Gly) rs2107616088
NM_004637.6(RAB7A):c.520C>T (p.Leu174Phe)
NM_004637.6(RAB7A):c.528+2dup rs2529141365
NM_004637.6(RAB7A):c.570C>G (p.Ile190Met) rs2529150217
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>T (p.Ala198Ser) rs748832566
NM_004637.6(RAB7A):c.605C>G (p.Ala202Gly) rs2107618449
NM_004637.6(RAB7A):c.612C>G (p.Ser204Arg)
NM_004637.6(RAB7A):c.74T>C (p.Met25Thr) rs2529127203

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