ClinVar Miner

List of variants reported as uncertain significance for Basal cell carcinoma, susceptibility to, 1; Medulloblastoma

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.2803G>A (p.Ala935Thr) rs144561012 0.00014
NM_003738.5(PTCH2):c.1112C>G (p.Ala371Gly) rs373859654 0.00013
NM_003738.5(PTCH2):c.1255G>A (p.Ala419Thr) rs765975927 0.00006
NM_003738.5(PTCH2):c.3190G>A (p.Asp1064Asn) rs758108389 0.00006
NM_003738.5(PTCH2):c.2410C>T (p.Arg804Cys) rs146570996 0.00005
NM_003738.5(PTCH2):c.1790C>A (p.Thr597Asn) rs201345708 0.00004
NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe) rs138220875 0.00004
NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=) rs752886480 0.00004
NM_003738.5(PTCH2):c.446T>A (p.Leu149His) rs111283762 0.00004
NM_003738.5(PTCH2):c.2882G>A (p.Arg961Gln) rs369745249 0.00003
NM_003738.5(PTCH2):c.3166G>C (p.Glu1056Gln) rs1488300164 0.00003
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) rs747885797 0.00003
NM_003738.5(PTCH2):c.1244G>A (p.Arg415Gln) rs764488358 0.00002
NM_003738.5(PTCH2):c.1979C>A (p.Ser660Tyr) rs376282577 0.00002
NM_003738.5(PTCH2):c.2716G>C (p.Glu906Gln) rs751579508 0.00002
NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter) rs56024410 0.00002
NM_003738.5(PTCH2):c.2260C>T (p.Arg754Cys) rs779024571 0.00001
NM_003738.5(PTCH2):c.2812G>A (p.Gly938Ser) rs746898559 0.00001
NM_003738.5(PTCH2):c.3500C>T (p.Pro1167Leu) rs777389212 0.00001
NM_003738.5(PTCH2):c.3566G>C (p.Ser1189Thr) rs900911841 0.00001
NM_003738.5(PTCH2):c.523C>T (p.Arg175Trp) rs777212373 0.00001
NM_003738.5(PTCH2):c.1032_1035del (p.Ser344fs)
NM_003738.5(PTCH2):c.1078G>C (p.Val360Leu) rs745653597
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003738.5(PTCH2):c.1189del (p.Arg397fs) rs778199787
NM_003738.5(PTCH2):c.1326del (p.Leu443fs) rs755069524
NM_003738.5(PTCH2):c.1372-2A>T
NM_003738.5(PTCH2):c.1524del (p.Asn508fs)
NM_003738.5(PTCH2):c.1559C>T (p.Pro520Leu)
NM_003738.5(PTCH2):c.1670G>A (p.Arg557His)
NM_003738.5(PTCH2):c.1691T>G (p.Val564Gly)
NM_003738.5(PTCH2):c.1827C>A (p.Ser609Arg)
NM_003738.5(PTCH2):c.2019del (p.Tyr674fs)
NM_003738.5(PTCH2):c.2178C>A (p.Phe726Leu) rs1573645770
NM_003738.5(PTCH2):c.2263G>C (p.Ala755Pro)
NM_003738.5(PTCH2):c.2339C>T (p.Thr780Ile)
NM_003738.5(PTCH2):c.2540G>A (p.Arg847Lys) rs2148874807
NM_003738.5(PTCH2):c.2670C>G (p.Tyr890Ter)
NM_003738.5(PTCH2):c.2681G>A (p.Gly894Glu)
NM_003738.5(PTCH2):c.3313G>A (p.Val1105Met)
NM_003738.5(PTCH2):c.3350C>T (p.Pro1117Leu)
NM_003738.5(PTCH2):c.3412G>A (p.Gly1138Arg)
NM_003738.5(PTCH2):c.565del (p.Leu189fs)
NM_003738.5(PTCH2):c.617+1G>A
NM_003738.5(PTCH2):c.617+4A>T
NM_003738.5(PTCH2):c.742G>A (p.Val248Met)
NM_003738.5(PTCH2):c.788G>C (p.Ser263Thr) rs77102909

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