ClinVar Miner

List of variants reported as benign for X-linked myotubular myopathy by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_000252.3(MTM1):c.232-28C>T rs73620649 0.03576
NM_000252.3(MTM1):c.232-54A>T rs143312552 0.00356
NM_000252.3(MTM1):c.615G>A (p.Pro205=) rs144517020 0.00053
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011

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