List of variants in gene PTCH1 reported by OMIM

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	rs138911275	0.00066
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr)	rs199476091	0.00001
NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)	rs267606984
NM_000264.5(PTCH1):c.1160G>A (p.Trp387Ter)	rs2118365442
NM_000264.5(PTCH1):c.1261dup (p.Ser421fs)	rs2118336503
NM_000264.5(PTCH1):c.2595del (p.Ile868fs)	rs2136689212
NM_000264.5(PTCH1):c.2723T>G (p.Val908Gly)	rs199476093
NM_000264.5(PTCH1):c.3340A>T (p.Arg1114Trp)	rs587776689
NM_000264.5(PTCH1):c.387G>A (p.Trp129Ter)	rs1587692888
NM_000264.5(PTCH1):c.816_852del (p.Asn272fs)	rs2118419579
PTCH1, PRO-SER, 451C-T

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