ClinVar Miner

Variants in gene PRPH2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770 0.00414
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu) rs62645939 0.00079
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.1015G>A (p.Ala339Thr) rs760687443 0.00018
NM_000322.5(PRPH2):c.37C>T (p.Arg13Trp) rs61754402 0.00018
NM_000322.5(PRPH2):c.781C>T (p.Leu261Phe) rs150381599 0.00011
NM_000322.5(PRPH2):c.44A>G (p.Lys15Arg) rs555112175 0.00006
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
NM_000322.5(PRPH2):c.299C>T (p.Pro100Leu) rs768400169 0.00001
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met) rs76989855
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728

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