List of variants in gene PTCH1 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)	rs1064794260
NM_000264.5(PTCH1):c.3094_3095del (p.Ile1032fs)	rs1839105353
NM_000264.5(PTCH1):c.579C>A (p.Tyr193Ter)	rs1333346461
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)	rs1554700630

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