ClinVar Miner

List of variants in gene PTCH1 reported as not provided by ITMI

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Total variants: 24
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HGVS dbSNP
NM_001083602.2(PTCH1):c.1049C>G (p.Thr350Ser) rs201174718
NM_001083602.2(PTCH1):c.1108G>A (p.Asp370Asn) rs142274954
NM_001083602.2(PTCH1):c.14C>T (p.Thr5Ile) rs529720410
NM_001083602.2(PTCH1):c.2957C>T (p.Thr986Met) rs138911275
NM_001083602.2(PTCH1):c.3043G>A (p.Val1015Met) rs587778629
NM_001083602.2(PTCH1):c.3178G>A (p.Val1060Ile) rs147025073
NM_001083602.2(PTCH1):c.322G>A (p.Ala108Thr) rs587778633
NM_001083602.2(PTCH1):c.3289G>A (p.Gly1097Ser) rs113663584
NM_001083602.2(PTCH1):c.3385A>T (p.Thr1129Ser) rs2236405
NM_001083602.2(PTCH1):c.3419G>A (p.Arg1140His) rs560967532
NM_001083602.2(PTCH1):c.3568G>A (p.Val1190Met) rs150850039
NM_001083602.2(PTCH1):c.3647C>T (p.Pro1216Leu) rs2227968
NM_001083602.2(PTCH1):c.3742C>T (p.Pro1248Ser) rs574856671
NM_001083602.2(PTCH1):c.3746C>T (p.Pro1249Leu) rs357564
NM_001083602.2(PTCH1):c.3964G>A (p.Gly1322Arg) rs587778631
NM_001083602.2(PTCH1):c.4-1624C>T rs138729094
NM_001083602.2(PTCH1):c.4-1659G>A rs587778627
NM_001083602.2(PTCH1):c.4021G>A (p.Gly1341Ser) rs56161606
NM_001083602.2(PTCH1):c.4076C>T (p.Ser1359Leu) rs587778630
NM_001083602.2(PTCH1):c.4105G>A (p.Val1369Met) rs587778632
NM_001083602.2(PTCH1):c.4126C>T (p.Arg1376Trp) rs143464326
NM_001083602.2(PTCH1):c.4127G>A (p.Arg1376Gln) rs56023271
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759

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