ClinVar Miner

List of variants in gene LOC100507346, PTCH1 studied for congenital nervous system disorder

Included ClinVar conditions (854):
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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
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.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.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.2484C>T (p.Asn828=) rs143305989 0.00016
NM_000264.5(PTCH1):c.2059G>A (p.Val687Met) rs374691153 0.00015
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697 0.00011
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00010
NM_000264.5(PTCH1):c.2333C>T (p.Thr778Met) rs747762028 0.00009
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His) rs199523893 0.00006
NM_000264.5(PTCH1):c.2560+11G>A rs774494594 0.00006
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val) rs771222407 0.00005
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.1810G>A (p.Glu604Lys) rs778627715 0.00002
NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser) rs758811078 0.00001
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117 0.00001
NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe) rs544963328 0.00001
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) rs754623561 0.00001
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=) rs766227557 0.00001
NM_000264.5(PTCH1):c.2560+6A>G rs1414242958 0.00001
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs) rs1588574984
NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys) rs1131690992
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter) rs766313615
NM_000264.5(PTCH1):c.2368T>G (p.Phe790Val) rs1840096220
NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr) rs1554694376
NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val) rs1554694372
NM_000264.5(PTCH1):c.2500T>G (p.Leu834Val) rs1840080865

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