ClinVar Miner

List of variants reported as benign for Congenital myasthenic syndrome 12 by Invitae

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_001244710.2(GFPT1):c.7+36T>C rs6720415 0.57447
NM_001244710.2(GFPT1):c.147T>C (p.Asp49=) rs2230300 0.01692
NM_001244710.2(GFPT1):c.408+7A>T rs112682152 0.01229
NM_001244710.2(GFPT1):c.675C>T (p.Leu225=) rs78952091 0.00975
NM_001244710.2(GFPT1):c.549T>C (p.Gly183=) rs144566433 0.00249
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.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.409-15del rs753279036
NM_001244710.2(GFPT1):c.544-11dup rs1242206987
NM_001244710.2(GFPT1):c.686-18dup

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