ClinVar Miner

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

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_176787.5(PIGN):c.548_549+6del rs779636222 0.00010
NM_176787.5(PIGN):c.1251+1G>A rs1462805697 0.00003
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln) rs374704368 0.00002
NM_176787.5(PIGN):c.1434+5G>A rs369486176 0.00001
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_176787.5(PIGN):c.981dup (p.Met328fs) rs776697598 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_176787.5(PIGN):c.1258del (p.Leu420fs) rs1555685797
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655

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