List of variants in gene combination LOC100507346, PTCH1 reported by CeGaT Center for Human Genetics Tuebingen

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: 16

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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.2173C>T (p.Pro725Ser)	rs149258400	0.00098
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)	rs1805156	0.00086
NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=)	rs151216961	0.00025
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=)	rs141134542	0.00017
NM_000264.5(PTCH1):c.2074G>A (p.Val692Met)	rs758487789	0.00006
NM_000264.5(PTCH1):c.1735G>A (p.Val579Ile)	rs751708515	0.00001
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser)	rs547954117	0.00001
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe)	rs544963328	0.00001
NM_000264.5(PTCH1):c.2334G>A (p.Thr778=)	rs1369922802	0.00001
NM_000264.5(PTCH1):c.2505A>G (p.Glu835=)	rs749651063	0.00001
NM_000264.5(PTCH1):c.1729-11del	rs779000277
NM_000264.5(PTCH1):c.1778C>G (p.Pro593Arg)	rs2118094139
NM_000264.5(PTCH1):c.2113_2151del (p.Thr705_Asp717del)	rs2118033163
NM_000264.5(PTCH1):c.2332dup (p.Thr778fs)	rs2117970002
NM_000264.5(PTCH1):c.2372T>C (p.Ile791Thr)	rs1564030910

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