List of variants in gene combination LOC100507346, PTCH1 reported as pathogenic by OMIM

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met)	rs115556836	0.00678
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly)	rs199476092	0.00036
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

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