ClinVar Miner

List of variants in gene PTCH1 reported as benign by PreventionGenetics

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Total variants: 19
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HGVS dbSNP
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.2689+21A>G rs2236406
NM_001083602.2(PTCH1):c.2694G>A (p.Pro898=) rs377213209
NM_001083602.2(PTCH1):c.2943T>G (p.Leu981=) rs2066835
NM_001083602.2(PTCH1):c.3189C>T (p.Gly1063=) rs28446339
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3369C>T (p.Gly1123=) rs62637630
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3606+32T>C rs199982439
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.3882C>T (p.Ser1294=) rs62637631
NM_001083602.2(PTCH1):c.537A>G (p.Thr179=) rs1805154
NM_001083602.2(PTCH1):c.876T>C (p.His292=) rs2066832
NM_001083602.2(PTCH1):c.921C>T (p.Tyr307=) rs2066831

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