List of variants in gene PTCH1 reported as likely pathogenic by 3billion

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.290_291insG (p.Asn97fs)	rs2538383374
NM_000264.5(PTCH1):c.318_334del (p.Leu107fs)	rs2118876177
NM_000264.5(PTCH1):c.559del (p.Arg187fs)	rs2538266790
NM_000264.5(PTCH1):c.758del (p.Pro253fs)	rs2538234385
NM_001083603.3(PTCH1):c.91del (p.Tyr31fs)	rs1844383228

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