ClinVar Miner

Variants in gene PTCH1 with conflicting interpretations "benign" and "benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759 0.02608
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564

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