ClinVar Miner

List of variants in gene combination LOC130002132, PTCH1 reported as likely benign for Gorlin syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.202-6C>T rs779129066 0.00002
NM_000264.5(PTCH1):c.202-19C>T rs886038275 0.00001
NM_000264.5(PTCH1):c.202-8G>A rs750693438 0.00001
NM_000264.5(PTCH1):c.202-11T>C
NM_000264.5(PTCH1):c.202-12C>T
NM_000264.5(PTCH1):c.202-18C>T rs2118881910
NM_000264.5(PTCH1):c.202-4C>G rs1587693895
NM_000264.5(PTCH1):c.202-4C>T rs1587693895
NM_000264.5(PTCH1):c.202-5C>T
NM_000264.5(PTCH1):c.202-8G>C rs750693438
NM_000264.5(PTCH1):c.202-8G>T rs750693438
NM_000264.5(PTCH1):c.202-9C>G rs1843669657
NM_000264.5(PTCH1):c.202-9C>T rs1843669657

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