ClinVar Miner

List of variants in gene PTCH1 reported as benign by Integrated Genetics/Laboratory Corporation of America

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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_000264.3(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.4(PTCH1):c.-6_-4dup rs71366293
NM_000264.4(PTCH1):c.-9_-4delGGCGGC rs71366293
NM_000264.4(PTCH1):c.1504-8T>C rs2277184
NM_000264.4(PTCH1):c.1641C>T (p.Ser547=) rs2066830
NM_000264.4(PTCH1):c.1665T>C (p.Asn555=) rs1805155
NM_000264.4(PTCH1):c.1686C>T (p.Ala562=) rs2066836
NM_000264.4(PTCH1):c.2937C>T (p.Asn979=) rs58629309
NM_000264.4(PTCH1):c.3141T>G (p.Leu1047=) rs2066835
NM_000264.4(PTCH1):c.318C>T (p.Leu106=) rs1805153
NM_000264.4(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.4(PTCH1):c.3606C>T (p.Pro1202=) rs138240178
NM_000264.4(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.4(PTCH1):c.4128C>T (p.Ser1376=) rs142148876
NM_000264.4(PTCH1):c.735A>G (p.Thr245=) rs1805154

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