ClinVar Miner

List of variants reported as pathogenic for congenital myasthenic syndrome 13

Included ClinVar conditions (2):
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001382.4(DPAGT1):c.324G>C (p.Met108Ile) rs376039938 0.00003
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151 0.00001
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482 0.00001
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) rs1555207826 0.00001
NM_001382.4(DPAGT1):c.699dup (p.Thr234fs) rs397515321 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_001382.4(DPAGT1):c.791T>G (p.Val264Gly) rs387907245 0.00001
NM_001382.4(DPAGT1):c.902G>A (p.Arg301His) rs768416381 0.00001
NC_000011.9:g.(?_118967698)_(119170501_?)del
NM_001382.4(DPAGT1):c.349G>A (p.Val117Ile) rs387907243
NM_001382.4(DPAGT1):c.358C>A (p.Leu120Met) rs387907244
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter) rs1315559074
NM_001382.4(DPAGT1):c.6G>A (p.Trp2Ter) rs2134919748
NM_001382.4(DPAGT1):c.732C>A (p.Tyr244Ter)
NM_001382.4(DPAGT1):c.762_765del (p.Cys255fs) rs2134901573
NM_001382.4(DPAGT1):c.79del (p.Thr27fs)
NM_001382.4(DPAGT1):c.85A>T (p.Ile29Phe) rs397515328

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