ClinVar Miner

List of variants in gene PTCH2 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=) rs34245589 0.00406
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_003738.5(PTCH2):c.1994G>A (p.Arg665His) rs138588008 0.00103
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr) rs147669300 0.00037
NM_003738.5(PTCH2):c.2661C>T (p.His887=) rs149815763 0.00016
NM_003738.5(PTCH2):c.565C>G (p.Leu189Val) rs747885797 0.00003
NM_003738.5(PTCH2):c.19C>G (p.Leu7Val) rs1030456781 0.00002
NM_003738.5(PTCH2):c.247G>A (p.Glu83Lys) rs781204167 0.00002
NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) rs539161089 0.00002
NM_003738.5(PTCH2):c.109C>T (p.Arg37Cys) rs768246990 0.00001
NM_003738.5(PTCH2):c.550G>A (p.Val184Met) rs748846701 0.00001

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