List of variants in gene PTCH1 reported by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His)	rs73527759	0.02608
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)	rs2227968	0.00959
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly)	rs202111971	0.00732
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	rs138911275	0.00066
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	rs113663584	0.00057
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)	rs143464326	0.00043
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)	rs56023271	0.00036
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His)	rs138154222	0.00014
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)	rs200100952	0.00010
NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln)	rs201118857	0.00005
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met)	rs202052415	0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln)	rs386833412	0.00003
NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)	rs45535032	0.00003
NM_000264.5(PTCH1):c.306G>C (p.Leu102Phe)	rs199522392
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)	rs357564

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