ClinVar Miner

List of variants in gene PTCH2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00534
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=) rs35851686 0.00152
NM_003738.5(PTCH2):c.2013C>T (p.Phe671=) rs112563011 0.00108
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=) rs140921885 0.00066
NM_003738.5(PTCH2):c.2679G>A (p.Thr893=) rs113617379 0.00046
NM_003738.5(PTCH2):c.2184C>T (p.Ser728=) rs146379791 0.00035
NM_003738.5(PTCH2):c.3189C>T (p.Thr1063=) rs143986029 0.00035
NM_003738.5(PTCH2):c.2559C>T (p.Pro853=) rs148265788 0.00026
NM_003738.5(PTCH2):c.2661C>T (p.His887=) rs149815763 0.00016
NM_003738.5(PTCH2):c.3183C>T (p.Pro1061=) rs201010330 0.00013
NM_003738.5(PTCH2):c.1476C>A (p.Gly492=) rs569864866 0.00002
NM_001166292.2(PTCH2):c.3425+728T>C
NM_003738.5(PTCH2):c.1254C>T (p.Cys418=)
NM_003738.5(PTCH2):c.1506C>G (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1506C>T (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1614C>T (p.Thr538=)
NM_003738.5(PTCH2):c.2206C>T (p.Leu736=)
NM_003738.5(PTCH2):c.3153C>T (p.Ala1051=)
NM_003738.5(PTCH2):c.387C>G (p.Pro129=)
NM_003738.5(PTCH2):c.435C>T (p.Val145=)

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