List of variants in gene PTCH1 reported as uncertain significance by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)	rs143464326	0.00060
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	rs113663584	0.00058
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)	rs56023271	0.00036
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)	rs556901417	0.00025
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)	rs574880967	0.00021
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)	rs147025073	0.00012
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=)	rs369295226	0.00009
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=)	rs201357130	0.00008
NM_000264.5(PTCH1):c.3955C>T (p.Arg1319Cys)	rs375998275	0.00007
NM_000264.5(PTCH1):c.1067+5G>C	rs372657547	0.00004
NM_000264.5(PTCH1):c.2562A>G (p.Gly854=)	rs751613059
NM_000264.5(PTCH1):c.4168G>C (p.Gly1390Arg)	rs1239904766

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