List of variants in gene LOC130002133, PTCH1 studied for basal cell nevus syndrome 1

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.146A>G (p.Tyr49Cys)	rs774156512	0.00006
NM_000264.5(PTCH1):c.107C>G (p.Thr36Arg)	rs1449765833	0.00003
NM_000264.5(PTCH1):c.67G>A (p.Ala23Thr)	rs863224654	0.00002
NM_000264.5(PTCH1):c.150G>T (p.Leu50=)	rs1172557603	0.00001
NM_000264.5(PTCH1):c.113G>C (p.Gly38Ala)	rs143494325
NM_000264.5(PTCH1):c.139C>G (p.Arg47Gly)	rs138729094
NM_000264.5(PTCH1):c.16A>G (p.Asn6Asp)	rs1587701202

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