ClinVar Miner

Variants in gene AIP 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: 17
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HGVS dbSNP gnomAD frequency
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_003977.4(AIP):c.301G>A (p.Val101Met) rs147931650 0.00085
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567 0.00055
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_003977.4(AIP):c.733G>A (p.Glu245Lys) rs150645662 0.00012
NM_003977.4(AIP):c.561C>T (p.Asn187=) rs142037029 0.00008
NM_003977.4(AIP):c.724C>G (p.Leu242Val) rs772782309 0.00008
NM_003977.4(AIP):c.403C>T (p.His135Tyr) rs150487522 0.00006
NM_003977.4(AIP):c.692C>T (p.Thr231Met) rs532170807 0.00004
NM_003977.4(AIP):c.822C>A (p.Ala274=) rs145142121 0.00002
NM_003977.4(AIP):c.345G>C (p.Leu115=) rs996404334 0.00001
NM_003977.4(AIP):c.6G>A (p.Ala2=) rs1865725846 0.00001
NM_003977.4(AIP):c.783C>T (p.Tyr261=) rs267606576 0.00001

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