ClinVar Miner

List of variants in gene LOC100507346, PTCH1 studied for basal cell carcinoma, susceptibility to, 1

Included ClinVar conditions (9):
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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01174
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.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00011
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val) rs771222407 0.00005
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn) rs559293815 0.00004
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys) rs778627715 0.00002
NM_000264.5(PTCH1):c.1855G>A (p.Val619Ile) rs1060502266 0.00002
NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) rs149762881 0.00002
NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile) rs878853850 0.00002
NM_000264.5(PTCH1):c.1892C>T (p.Thr631Ile) rs727504112 0.00001
NM_000264.5(PTCH1):c.1961C>T (p.Thr654Met) rs746898855 0.00001
NM_000264.5(PTCH1):c.1993C>T (p.Arg665Cys) rs767947110 0.00001
NM_000264.5(PTCH1):c.2172G>C (p.Glu724Asp) rs747274181 0.00001
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg) rs963297092 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.2328C>A (p.Asp776Glu) rs923429610 0.00001
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) rs754623561 0.00001
NM_000264.5(PTCH1):c.2513A>C (p.Lys838Thr) rs1220749812 0.00001
NM_000264.5(PTCH1):c.1783A>C (p.Ile595Leu) rs2118093632
NM_000264.5(PTCH1):c.1892C>G (p.Thr631Ser) rs727504112
NM_000264.5(PTCH1):c.1912_1913delinsTT (p.Arg638Phe) rs2538149538
NM_000264.5(PTCH1):c.1972A>G (p.Met658Val) rs1448553293
NM_000264.5(PTCH1):c.2004C>G (p.Tyr668Ter) rs151216961
NM_000264.5(PTCH1):c.2068G>T (p.Val690Phe) rs750970743
NM_000264.5(PTCH1):c.2102G>A (p.Ser701Asn) rs775235892
NM_000264.5(PTCH1):c.2105C>T (p.Pro702Leu) rs368362152
NM_000264.5(PTCH1):c.2120C>G (p.Ser707Cys) rs1840288367
NM_000264.5(PTCH1):c.2180G>A (p.Cys727Tyr) rs2118030105
NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys) rs1131690992
NM_000264.5(PTCH1):c.2285G>A (p.Gly762Glu) rs1840110120
NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter) rs766313615
NM_000264.5(PTCH1):c.2333C>A (p.Thr778Lys) rs747762028
NM_000264.5(PTCH1):c.2372T>C (p.Ile791Thr) rs1564030910
NM_000264.5(PTCH1):c.2380C>T (p.Gln794Ter) rs1840094606
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.2470A>G (p.Arg824Gly) rs2117955352
NM_000264.5(PTCH1):c.2511_2512delinsTT (p.Lys838Ter)
NM_000264.5(PTCH1):c.2540A>G (p.Tyr847Cys) rs1352235060

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