ClinVar Miner

List of variants studied for demyelinating hereditary motor and sensory neuropathy by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=) rs4875950
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) rs2294039
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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