ClinVar Miner

List of variants in gene combination LOC100507346, PTCH1 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
NM_000264.5(PTCH1):c.2250+25T>C rs16909898 0.10561
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=) rs62637628 0.00887
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000264.5(PTCH1):c.2050G>A (p.Glu684Lys) rs62637629 0.00061
NM_000264.5(PTCH1):c.1847+14C>T rs202007968 0.00053
NM_000264.5(PTCH1):c.2560+8G>A rs201541845 0.00049
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.2560+7C>T rs75576651 0.00016
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697 0.00011
NM_000264.5(PTCH1):c.1800A>G (p.Leu600=) rs768939676 0.00009
NM_000264.5(PTCH1):c.2439G>A (p.Pro813=) rs151266988 0.00004
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.2184G>A (p.Thr728=) rs201103723 0.00003
NM_000264.5(PTCH1):c.2250+46C>T rs576611266 0.00002
NM_000264.5(PTCH1):c.1735G>A (p.Val579Ile) rs751708515 0.00001
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu) rs765258547 0.00001
NM_000264.5(PTCH1):c.1893C>T (p.Thr631=) rs757344587 0.00001
NM_000264.5(PTCH1):c.1988A>G (p.Gln663Arg) rs1840305709 0.00001
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117 0.00001
NM_000264.5(PTCH1):c.2370T>C (p.Phe790=) rs1060502300 0.00001
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557 0.00001
NM_000264.5(PTCH1):c.2469C>T (p.His823=) rs761707282 0.00001
NM_000264.5(PTCH1):c.1734G>A (p.Ala578=) rs765440424
NM_000264.5(PTCH1):c.1805G>A (p.Arg602Gln) rs1382474804
NM_000264.5(PTCH1):c.2007C>T (p.Asp669=)
NM_000264.5(PTCH1):c.2117_2122del (p.Ser706_Ser707del)
NM_000264.5(PTCH1):c.2151C>G (p.Asp717Glu)
NM_000264.5(PTCH1):c.2229C>T (p.Phe743=) rs1009657162
NM_000264.5(PTCH1):c.2251-7G>A
NM_000264.5(PTCH1):c.2265_2268del (p.Leu756fs) rs1840113211
NM_000264.5(PTCH1):c.2287del (p.Val763fs)
NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup) rs1588568813
NM_000264.5(PTCH1):c.2561-2053G>A

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