List of variants in gene PTCH1 studied for Inborn genetic diseases

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.4171C>T (p.Arg1391Trp)	rs45535032	0.00003
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser)	rs758907408	0.00001
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)	rs1554698260
NM_000264.5(PTCH1):c.187G>T (p.Glu63Ter)	rs781768965
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter)	rs1554708787
NM_000264.5(PTCH1):c.2887+2T>C	rs1839273008
NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter)	rs1554691359
NM_000264.5(PTCH1):c.3209T>G (p.Met1070Arg)	rs2136649542
NM_000264.5(PTCH1):c.3549+1G>A	rs1838303542
NM_000264.5(PTCH1):c.4096C>T (p.Gln1366Ter)
NM_001083603.3(PTCH1):c.147C>G (p.Asn49Lys)

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