ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth Neuropathy X

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_002764.4(PRPS1):c.456A>G (p.Leu152=) rs61735617 0.00632
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_002764.4(PRPS1):c.447G>A (p.Pro149=) rs80338730 0.00068
NM_002764.4(PRPS1):c.942C>T (p.Ser314=) rs147731055 0.00058
NM_002764.4(PRPS1):c.705-11T>C rs190164271 0.00052
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00035
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326 0.00022
NM_000166.6(GJB1):c.30C>T (p.Leu10=) rs183702021 0.00018
NM_000166.6(GJB1):c.442G>A (p.Val148Ile) rs775956201 0.00007
NM_000166.6(GJB1):c.540C>T (p.Phe180=) rs771022595 0.00007
NM_000166.6(GJB1):c.671G>A (p.Arg224His) rs201697702 0.00006
NM_000166.6(GJB1):c.504C>T (p.Cys168=) rs757808220 0.00005
NM_000166.6(GJB1):c.627G>T (p.Val209=) rs376113695 0.00005
NM_002764.4(PRPS1):c.288G>A (p.Arg96=) rs752194539 0.00005
NM_002764.4(PRPS1):c.864+10A>G rs200767443 0.00005
NM_002764.4(PRPS1):c.924C>T (p.Ser308=) rs757207081 0.00005
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792 0.00004
NM_000166.6(GJB1):c.318A>G (p.Leu106=) rs754804402 0.00003
NM_000166.6(GJB1):c.849C>T (p.Cys283=) rs748676943 0.00003
NM_002764.4(PRPS1):c.406-20G>C rs781524630 0.00003
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) rs201285459 0.00003
NM_002764.4(PRPS1):c.705-16C>T rs752513486 0.00003
NM_000166.6(GJB1):c.843G>A (p.Ser281=) rs779327968 0.00002
NM_002764.4(PRPS1):c.705-6C>T rs199740956 0.00002
NM_002764.4(PRPS1):c.858A>G (p.Lys286=) rs775162729 0.00002
NM_000166.6(GJB1):c.705C>T (p.Phe235=) rs760150310 0.00001
NM_002764.4(PRPS1):c.12C>T (p.Ile4=) rs752590804 0.00001
NM_002764.4(PRPS1):c.531-14G>A rs755451906 0.00001
NM_002764.4(PRPS1):c.660T>C (p.Asp220=) rs759163993 0.00001
NM_000166.6(GJB1):c.30C>A (p.Leu10=)
NM_001097642.3(GJB1):c.-16-697G>A rs6525485
NM_002764.4(PRPS1):c.123-16dup rs750392051
NM_002764.4(PRPS1):c.270A>C (p.Pro90=) rs766786656
NM_002764.4(PRPS1):c.531-15C>T rs200259438
NM_002764.4(PRPS1):c.705-9dup
NM_002764.4(PRPS1):c.864+23del

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