List of variants in gene combination LOC100507346, PTCH1 reported as uncertain significance for basal cell nevus syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile)	rs878853850	0.00002
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg)	rs963297092	0.00001
NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg)	rs587778628	0.00001
NM_000264.5(PTCH1):c.2540A>G (p.Tyr847Cys)	rs1352235060

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