ClinVar Miner

Variants in gene P3H1 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: 10
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HGVS dbSNP gnomAD frequency
NM_022356.4(P3H1):c.2055+18G>A rs137853890 0.00003
NM_022356.4(P3H1):c.1096C>T (p.Arg366Ter) rs752575140 0.00001
NM_022356.4(P3H1):c.1120G>T (p.Glu374Ter) rs140468248
NM_022356.4(P3H1):c.1383_1389dup (p.Lys464fs)
NM_022356.4(P3H1):c.1839-2A>C rs755665899
NM_022356.4(P3H1):c.2041C>T (p.Arg681Ter) rs72659356
NM_022356.4(P3H1):c.2131dup (p.Leu711fs) rs1570452407
NM_022356.4(P3H1):c.570_571del (p.Gly191fs) rs1553143741
NM_022356.4(P3H1):c.572del (p.Gly191fs)
NM_022356.4(P3H1):c.640C>T (p.Arg214Ter)

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