ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_014629.4(ARHGEF10):c.2259+8T>C rs1015159398
NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile) rs61752020
NM_014629.4(ARHGEF10):c.38-10T>C rs138713415
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652

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