ClinVar Miner

List of variants studied for Gorlin syndrome by Mendelics

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417 0.00025
NM_016169.4(SUFU):c.1296+1638C>T rs368920108 0.00014
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606 0.00009
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629 0.00007
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs) rs781171287 0.00001
NM_000264.5(PTCH1):c.1055del (p.Gly352fs) rs2118388096
NM_000264.5(PTCH1):c.1328C>G (p.Ala443Gly) rs878853845
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter) rs1554698260
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del) rs1588578556
NM_000264.5(PTCH1):c.1848-3C>G rs2118062649
NM_000264.5(PTCH1):c.2513_2516del (p.Lys838fs) rs1588568477
NM_000264.5(PTCH1):c.3281_3282dup (p.Glu1095fs) rs1588535437
NM_000264.5(PTCH1):c.3467T>G (p.Leu1156Arg) rs1838315058
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del) rs756897237
NM_000264.5(PTCH1):c.654+1G>A rs2118471978
NM_000264.5(PTCH1):c.915dup (p.Ala306fs) rs2118413937
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_016169.4(SUFU):c.1023-3C>T rs550262133
NM_016169.4(SUFU):c.37A>C (p.Thr13Pro) rs1456048322
NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del) rs1589969829

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