ClinVar Miner

List of variants in gene PTCH1 studied for See cases

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.3686C>T (p.Thr1229Met) rs781080456 0.00002
GRCh37/hg19 9q22.32(chr9:98210883-98211159)x1
GRCh37/hg19 9q22.32(chr9:98239022-98239146)x3
GRCh37/hg19 9q22.32(chr9:98239051-98239146)x3
GRCh37/hg19 9q22.32(chr9:98270240-98270408)x3
GRCh38/hg38 9q22.32(chr9:95516880-95521983)x3
NM_000264.5(PTCH1):c.2808C>T (p.Ala936=) rs1393599414
NM_000264.5(PTCH1):c.841A>G (p.Met281Val) rs2118420301

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