ClinVar Miner

List of variants in gene POT1 reported as benign for Hereditary cancer-predisposing syndrome

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.1884A>C (p.Thr628=) rs17147565 0.03412
NM_015450.3(POT1):c.1687-5T>A rs35062732 0.00699
NM_015450.3(POT1):c.924A>G (p.Gln308=) rs34398311 0.00206
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514 0.00035
NM_015450.3(POT1):c.-153-9del rs57468586
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751

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