ClinVar Miner

List of variants reported as likely benign for Gorlin syndrome by Mendelics

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Total variants: 3
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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_016169.4(SUFU):c.37A>C (p.Thr13Pro) rs1456048322

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