ClinVar Miner

List of variants in gene SNAP25 studied for developmental and epileptic encephalopathy

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_130811.4(SNAP25):c.404G>A (p.Arg135His) rs1315869651 0.00001
NM_130811.4(SNAP25):c.92G>A (p.Arg31His) rs1341058084 0.00001
NM_130811.4(SNAP25):c.114+2T>G rs2123019421
NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu) rs2123063802
NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg) rs2123063830
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) rs797044873
NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser) rs2123063984
NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg) rs2123120184
NM_130811.4(SNAP25):c.176G>C (p.Arg59Pro) rs2064035728
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro) rs2064035939
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn) rs1555794286
NM_130811.4(SNAP25):c.212T>C (p.Met71Thr) rs2123120544
NM_130811.4(SNAP25):c.220G>A (p.Ala74Thr) rs1600775326
NM_130811.4(SNAP25):c.464del (p.Gly155fs) rs2123158973
NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr) rs2123159234
NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly) rs2123159261
NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter) rs2123159470
NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro) rs2123159524
NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr) rs2123205099
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter) rs2064355122
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro) rs2064355563
NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)
NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly) rs2123205311
NM_130811.4(SNAP25):c.596C>T (p.Ala199Val) rs2123205311
NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter) rs2123205373
NM_130811.4(SNAP25):c.72+1G>A rs2123003858

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