ClinVar Miner

Variants in gene SYNGAP1 with conflicting interpretations "pathogenic" and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro) rs1761021165
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546

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