ClinVar Miner

Variants in gene IQSEC2 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: 7
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val) rs782099475
NM_001111125.3(IQSEC2):c.2911C>T (p.Arg971Ter) rs1131691887
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln) rs886041767
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs) rs1569291627
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs) rs886041481

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