List of variants reported as pathogenic for Gorlin syndrome by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)	rs267606984
NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter)	rs2118365442
NM_000264.5(PTCH1):c.1261dup (p.Ser421fs)	rs2118336503
NM_000264.5(PTCH1):c.2011dup (p.His671fs)	rs1554695110
NM_000264.5(PTCH1):c.2057_2058dup (p.Val687fs)	rs2118041703
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup)	rs1588568813
NM_000264.5(PTCH1):c.2444_2454del (p.Ile815fs)	rs2117956624
NM_000264.5(PTCH1):c.2595del (p.Ile868fs)	rs2136689212
NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter)	rs1587692888
NM_000264.5(PTCH1):c.816_852del (p.Asn272fs)	rs2118419579

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