ClinVar Miner

List of variants in gene PTCH1 reported as benign for not provided

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Total variants: 29
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HGVS dbSNP
NC_000009.12:g.95517088T>A
NM_001083602.2(PTCH1):c.1150-136C>T
NM_001083602.2(PTCH1):c.120C>T (p.Leu40=) rs1805153
NM_001083602.2(PTCH1):c.1306-8T>C rs2277184
NM_001083602.2(PTCH1):c.1443C>T (p.Ser481=) rs2066830
NM_001083602.2(PTCH1):c.1467T>C (p.Asn489=) rs1805155
NM_001083602.2(PTCH1):c.1488C>T (p.Ala496=) rs2066836
NM_001083602.2(PTCH1):c.197-172T>C
NM_001083602.2(PTCH1):c.197-231T>C
NM_001083602.2(PTCH1):c.197-276_197-275insT
NM_001083602.2(PTCH1):c.2739C>T (p.Asn913=) rs58629309
NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) rs2066835
NM_001083602.2(PTCH1):c.3251+129A>G
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3408C>T (p.Pro1136=) rs138240178
NM_001083602.2(PTCH1):c.3607-197T>A
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_001083602.2(PTCH1):c.386+177G>A
NM_001083602.2(PTCH1):c.3882C>T (p.Ser1294=) rs62637631
NM_001083602.2(PTCH1):c.4-1654G>C rs199976372
NM_001083602.2(PTCH1):c.4-1786GGC[5] rs71366293
NM_001083602.2(PTCH1):c.4-1786GGC[8] rs71366293
NM_001083602.2(PTCH1):c.4-75_4-58dup
NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) rs1805154
NM_001083602.2(PTCH1):c.549-114C>T
NM_001083602.2(PTCH1):c.869+139T>C
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759

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