ClinVar Miner

List of variants studied for Gorlin syndrome by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.*20T>G rs4917980 0.99823
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68248
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_000264.5(PTCH1):c.2887+21A>G rs2236406 0.44137
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
NM_003738.5(PTCH2):c.2055T>C (p.Ala685=) rs7525308 0.42892
NM_003738.5(PTCH2):c.1590+22A>G rs2273940 0.42724
NM_003738.5(PTCH2):c.265+13C>T rs3795720 0.34867
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564

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