ClinVar Miner

List of variants reported as benign for congenital myasthenic syndrome 18

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_130811.4(SNAP25):c.*239G>T rs3746544 0.67678
NM_130811.4(SNAP25):c.-63-21820G>A rs363050 0.56821
NM_130811.4(SNAP25):c.552+23G>A rs363006 0.16391
NM_130811.4(SNAP25):c.330C>T (p.Asp110=) rs362998 0.10905
NM_130811.4(SNAP25):c.553-4C>T rs79020892 0.01788
NM_130811.4(SNAP25):c.75G>T (p.Ser25=) rs147866099 0.00128
NM_130811.4(SNAP25):c.281+16C>T rs375764492 0.00014
NM_130811.4(SNAP25):c.13G>A (p.Ala5Thr) rs201770060 0.00006
NM_130811.4(SNAP25):c.296A>T (p.Asp99Val) rs745741842 0.00002
NM_130811.4(SNAP25):c.115-15A>G rs552723518 0.00001
NM_130811.4(SNAP25):c.26A>G (p.Asn9Ser) rs1364361088
NM_130811.4(SNAP25):c.292A>G (p.Ser98Gly)

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