ClinVar Miner

List of variants reported as benign for X-linked myotubular myopathy

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 66
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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.1260+17A>G rs185258809 0.00687
NM_000252.3(MTM1):c.136+17A>G rs142891103 0.00648
NM_000252.3(MTM1):c.232-54A>T rs143312552 0.00356
NM_000252.3(MTM1):c.64-14T>C rs184956219 0.00340
NM_000252.3(MTM1):c.136+9C>T rs191553188 0.00337
NM_000252.3(MTM1):c.339T>C (p.Cys113=) rs147644722 0.00111
NM_000252.3(MTM1):c.615G>A (p.Pro205=) rs144517020 0.00053
NM_000252.3(MTM1):c.867+13A>C rs368954714 0.00051
NM_000252.3(MTM1):c.582C>T (p.Leu194=) rs367912069 0.00029
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_000252.3(MTM1):c.867+17A>G rs371239013 0.00017
NM_000252.3(MTM1):c.1701C>T (p.Tyr567=) rs587783806 0.00011
NM_000252.3(MTM1):c.176T>C (p.Ile59Thr) rs782217375 0.00011
NM_000252.3(MTM1):c.86G>A (p.Arg29Gln) rs782072494 0.00010
NM_000252.3(MTM1):c.422C>T (p.Ala141Val) rs140642341 0.00007
NM_000252.3(MTM1):c.1455T>C (p.Ala485=) rs141358705 0.00006
NM_000252.3(MTM1):c.1729G>A (p.Ala577Thr) rs148195763 0.00006
NM_000252.3(MTM1):c.1793A>G (p.His598Arg) rs201373390 0.00005
NM_000252.3(MTM1):c.546T>C (p.His182=) rs782217349 0.00005
NM_000252.3(MTM1):c.620G>A (p.Arg207His) rs187357952 0.00005
NM_000252.3(MTM1):c.755A>G (p.Lys252Arg) rs782740989 0.00005
NM_000252.3(MTM1):c.1196G>A (p.Ser399Asn) rs782295697 0.00004
NM_000252.3(MTM1):c.1695C>T (p.Asp565=) rs140744506 0.00004
NM_000252.3(MTM1):c.230C>T (p.Thr77Met) rs782640338 0.00004
NM_000252.3(MTM1):c.710C>T (p.Thr237Met) rs375590163 0.00004
NM_000252.3(MTM1):c.868-9G>T rs782148583 0.00004
NM_000252.3(MTM1):c.1209C>T (p.Phe403=) rs782407568 0.00003
NM_000252.3(MTM1):c.508G>C (p.Val170Leu) rs782274835 0.00003
NM_000252.3(MTM1):c.55A>C (p.Ile19Leu) rs1408923946 0.00003
NM_000252.3(MTM1):c.999A>G (p.Glu333=) rs782302438 0.00003
NM_000252.3(MTM1):c.1188C>T (p.Phe396=) rs370366538 0.00002
NM_000252.3(MTM1):c.1645-8C>T rs782348896 0.00002
NM_000252.3(MTM1):c.1702A>G (p.Ile568Val) rs587783807 0.00002
NM_000252.3(MTM1):c.297G>A (p.Ala99=) rs781784303 0.00002
NM_000252.3(MTM1):c.741C>T (p.Val247=) rs374360983 0.00002
NM_000252.3(MTM1):c.1080A>G (p.Val360=) rs782202285 0.00001
NM_000252.3(MTM1):c.1213A>G (p.Ile405Val) rs373788741 0.00001
NM_000252.3(MTM1):c.1261-6A>G rs781856399 0.00001
NM_000252.3(MTM1):c.1290C>T (p.Thr430=) rs374725419 0.00001
NM_000252.3(MTM1):c.1454C>T (p.Ala485Val) rs782137551 0.00001
NM_000252.3(MTM1):c.1468-10C>T rs782174623 0.00001
NM_000252.3(MTM1):c.258T>C (p.Pro86=) rs782702345 0.00001
NM_000252.3(MTM1):c.539A>G (p.Asn180Ser) rs781995404 0.00001
NM_000252.3(MTM1):c.783C>T (p.Leu261=) rs187394611 0.00001
NM_000252.3(MTM1):c.1053+20dup
NM_000252.3(MTM1):c.1054-9_1054-6del rs782691958
NM_000252.3(MTM1):c.1261-20A>G
NM_000252.3(MTM1):c.1354-7del rs782326353
NM_000252.3(MTM1):c.137-11del
NM_000252.3(MTM1):c.1467+24del
NM_000252.3(MTM1):c.1467+24dup
NM_000252.3(MTM1):c.1468-21TC[2]
NM_000252.3(MTM1):c.1644+18G>A
NM_000252.3(MTM1):c.223T>C (p.Leu75=)
NM_000252.3(MTM1):c.232-12dup
NM_000252.3(MTM1):c.296C>T (p.Ala99Val)
NM_000252.3(MTM1):c.343-3dup rs2148461677
NM_000252.3(MTM1):c.363C>T (p.Phe121=)
NM_000252.3(MTM1):c.414G>A (p.Thr138=)
NM_000252.3(MTM1):c.445-12dup
NM_000252.3(MTM1):c.446C>G (p.Pro149Arg) rs2148485707
NM_000252.3(MTM1):c.529-9dup
NM_000252.3(MTM1):c.63+7del rs782222093
NM_000252.3(MTM1):c.913G>A (p.Glu305Lys) rs587783861

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