ClinVar Miner

List of variants in gene PTCH1 reported as pathogenic by Ambry Genetics

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Total variants: 35
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HGVS dbSNP
NM_000264.4(PTCH1):c.3450del (p.Arg1150Serfs) rs1131691001
NM_001083602.2(PTCH1):c.1136del (p.Gly379fs) rs1131690978
NM_001083602.2(PTCH1):c.1181G>A (p.Trp394Ter) rs1131690974
NM_001083602.2(PTCH1):c.1306-2A>C rs1131690984
NM_001083602.2(PTCH1):c.1381C>T (p.Gln461Ter) rs1554698260
NM_001083602.2(PTCH1):c.1405-2A>C rs1064793921
NM_001083602.2(PTCH1):c.173_189del (p.Asn58fs) rs1554708626
NM_001083602.2(PTCH1):c.196+1G>A rs1131690995
NM_001083602.2(PTCH1):c.205C>T (p.Arg69Ter) rs1131690986
NM_001083602.2(PTCH1):c.2400del (p.Ile802fs) rs1131690975
NM_001083602.2(PTCH1):c.2564_2567dup (p.Thr858fs) rs1131690972
NM_001083602.2(PTCH1):c.2596del (p.Val866fs) rs1131690997
NM_001083602.2(PTCH1):c.2635C>T (p.Arg879Ter) rs1064794260
NM_001083602.2(PTCH1):c.2829C>A (p.Tyr943Ter) rs747234651
NM_001083602.2(PTCH1):c.284_293del (p.Thr95fs) rs1131690981
NM_001083602.2(PTCH1):c.2909T>A (p.Leu970Ter) rs1554691359
NM_001083602.2(PTCH1):c.2937_2940CTTC[1] (p.Phe980_Leu981insTer) rs1131690980
NM_001083602.2(PTCH1):c.2954G>A (p.Trp985Ter) rs1060502301
NM_001083602.2(PTCH1):c.3166_3167del (p.Met1056fs) rs1060502273
NM_001083602.2(PTCH1):c.3261del (p.Phe1087fs) rs1131690976
NM_001083602.2(PTCH1):c.36G>A (p.Trp12Ter) rs1554708787
NM_001083602.2(PTCH1):c.4-1576G>T rs781768965
NM_001083602.2(PTCH1):c.4-2A>C rs878853849
NM_001083602.2(PTCH1):c.465_466AT[1] (p.Tyr156fs) rs1131690993
NM_001083602.2(PTCH1):c.517dup (p.Ala173fs) rs1131690971
NM_001083602.2(PTCH1):c.543C>A (p.Tyr181Ter) rs1060502281
NM_001083602.2(PTCH1):c.548+1G>C rs1131690994
NM_001083602.2(PTCH1):c.609_612del (p.Lys203_Lys204insTer) rs1131690969
NM_001083602.2(PTCH1):c.679_689del (p.Asp227fs) rs1131690973
NM_001083602.2(PTCH1):c.688del (p.Cys230fs) rs1131690987
NM_001083602.2(PTCH1):c.747+2T>C rs1131690979
NM_001083602.2(PTCH1):c.803_812del (p.Tyr268fs) rs1554699612
NM_001083602.2(PTCH1):c.824T>A (p.Leu275Ter) rs1131690970
NM_001083602.2(PTCH1):c.921del (p.Met306_Tyr307insTer) rs1131691002
NM_001083602.2(PTCH1):c.96C>A (p.Cys32Ter) rs1131690968

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