List of variants in gene PTCH1 reported as likely pathogenic for not provided

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000264.5(PTCH1):c.1347+1G>C	rs1588602262
NM_000264.5(PTCH1):c.1503G>A (p.Gln501=)	rs1085307511
NM_000264.5(PTCH1):c.1503G>T (p.Gln501His)	rs1085307511
NM_000264.5(PTCH1):c.1504-1G>C	rs1057518400
NM_000264.5(PTCH1):c.202-2A>C	rs878853849
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)	rs1064794260
NM_000264.5(PTCH1):c.3169-1G>A	rs1060502285
NM_000264.5(PTCH1):c.3275T>A (p.Ile1092Lys)	rs1588535471
NM_000264.5(PTCH1):c.3395C>T (p.Ser1132Phe)	rs1588528503
NM_000264.5(PTCH1):c.3406G>A (p.Gly1136Arg)	rs1838655420
NM_000264.5(PTCH1):c.3406G>C (p.Gly1136Arg)	rs1838655420
NM_000264.5(PTCH1):c.554C>A (p.Ala185Asp)
NM_000264.5(PTCH1):c.564_569del (p.His189_Val190del)	rs1554702032
NM_000264.5(PTCH1):c.591G>T (p.Trp197Cys)	rs1841597665
NM_000264.5(PTCH1):c.945+3_945+6del	rs1064795637

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