ClinVar Miner

Variants in gene IQSEC2 with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630 0.00019
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136 0.00009
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) rs797044752 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629 0.00003
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) rs886044781 0.00002
NM_001111125.3(IQSEC2):c.2777G>A (p.Arg926Gln) rs1556861372 0.00002
NM_001111125.3(IQSEC2):c.618C>T (p.Ser206=) rs370573314 0.00002
NM_001111125.3(IQSEC2):c.3397G>A (p.Asp1133Asn) rs1556859667 0.00001
NM_001111125.3(IQSEC2):c.3523C>T (p.Arg1175Cys) rs1300877733 0.00001
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) rs1372592100 0.00001
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=) rs2074317922
NM_001111125.3(IQSEC2):c.823C>A (p.Pro275Thr)

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