ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 2B by Illumina Laboratory Services, Illumina

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_004637.6(RAB7A):c.*863C>G rs59753334 0.06107
NM_004637.6(RAB7A):c.*189A>G rs11549750 0.05501
NM_004637.6(RAB7A):c.219C>T (p.Leu73=) rs4548 0.04129
NM_004637.6(RAB7A):c.*997T>C rs3755593 0.03614
NM_004637.6(RAB7A):c.*206G>A rs16851333 0.01695
NM_004637.6(RAB7A):c.-97C>G rs141622970 0.01485
NM_004637.6(RAB7A):c.-29G>T rs112000804 0.01233
NM_004637.6(RAB7A):c.*163T>G rs182521602 0.00395
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_004637.6(RAB7A):c.*229C>T rs147244704 0.00050
NM_004637.6(RAB7A):c.87G>A (p.Val29=) rs145441548 0.00039
NM_004637.6(RAB7A):c.*1374G>A rs539522952 0.00038
NM_004637.6(RAB7A):c.*625T>C rs545004919 0.00025
NM_004637.5(RAB7A):c.-215C>T rs560785742 0.00022
NM_004637.6(RAB7A):c.-115C>T rs374777610 0.00009
NM_004637.6(RAB7A):c.*846A>G rs532629721 0.00001

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