ClinVar Miner

List of variants in gene GFPT1 reported as benign for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.*3065G>A rs7568296 0.67342
NM_001244710.2(GFPT1):c.*5001G>A rs13396883 0.66919
NM_001244710.2(GFPT1):c.*3285A>G rs7579532 0.66906
NM_001244710.2(GFPT1):c.*6085C>G rs7642 0.66555
NM_001244710.2(GFPT1):c.*2269A>G rs10198171 0.66442
NM_001244710.2(GFPT1):c.*4059A>G rs13751 0.65899
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_001244710.2(GFPT1):c.*3091A>C rs7582334 0.65873
NM_001244710.2(GFPT1):c.*2669C>T rs10185336 0.65232
NM_001244710.2(GFPT1):c.*800G>T rs2667 0.65228
NM_001244710.2(GFPT1):c.*2310A>G rs10198150 0.65225
NM_001244710.2(GFPT1):c.*4730G>A rs28694003 0.65218
NM_001244710.2(GFPT1):c.7+36T>C rs6720415 0.57447
NM_001244710.2(GFPT1):c.*4826A>C rs67016706 0.12917
NM_001244710.2(GFPT1):c.*1244G>T rs73937246 0.02428
NM_001244710.2(GFPT1):c.*6094C>T rs55888680 0.02423
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=) rs2230300 0.01692
NM_001244710.2(GFPT1):c.*2685A>G rs74972420 0.01293
NM_001244710.2(GFPT1):c.*2219C>T rs149217357 0.01291
NM_001244710.2(GFPT1):c.408+7A>T rs112682152 0.01229
NM_001244710.2(GFPT1):c.*603G>A rs78097440 0.01222
NM_001244710.2(GFPT1):c.*1085A>G rs75177078 0.01153
NM_001244710.2(GFPT1):c.*4053T>A rs4128250 0.01067
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=) rs78952091 0.00975
NM_001244710.2(GFPT1):c.*4403G>T rs148687340 0.00642
NM_001244710.2(GFPT1):c.*6366T>C rs115964031 0.00633
NM_001244710.2(GFPT1):c.*2511T>A rs60949141 0.00572
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=) rs144566433 0.00249
NM_001244710.2(GFPT1):c.*3781G>T rs116952694 0.00177
NM_001244710.2(GFPT1):c.224-12C>T rs375455794 0.00070
NM_001244710.2(GFPT1):c.1725+14G>A rs201672242 0.00014
NM_001244710.2(GFPT1):c.224-10T>C rs777508704 0.00005
NM_001244710.2(GFPT1):c.*2907C>T rs7568674
NM_001244710.2(GFPT1):c.*3345C>T rs73937245
NM_001244710.2(GFPT1):c.*870C>A rs77753566
NM_001244710.2(GFPT1):c.115+15dup rs758929556
NM_001244710.2(GFPT1):c.116-12A>G rs540758570
NM_001244710.2(GFPT1):c.1324+13del rs113734896
NM_001244710.2(GFPT1):c.1483-13del
NM_001244710.2(GFPT1):c.2040G>A (p.Val680=)
NM_001244710.2(GFPT1):c.2056-10C>T rs201931307
NM_001244710.2(GFPT1):c.2056-11del rs201268947
NM_001244710.2(GFPT1):c.2056-11dup rs201268947
NM_001244710.2(GFPT1):c.2056-12_2056-11del rs201268947
NM_001244710.2(GFPT1):c.349+17dup rs780939646
NM_001244710.2(GFPT1):c.408+30T>C rs67760762
NM_001244710.2(GFPT1):c.409-15del rs753279036
NM_001244710.2(GFPT1):c.544-11dup rs1242206987
NM_001244710.2(GFPT1):c.686-18dup

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