ClinVar Miner

Variants in gene POT1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 9
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.1792+50A>G rs146966778 0.01095
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_015450.3(POT1):c.939C>T (p.Asp313=) rs746756338 0.00006
NM_015450.3(POT1):c.1793-25G>A rs575804706 0.00004
NM_015450.3(POT1):c.-153-9del rs57468586
NM_015450.3(POT1):c.1505+7TGTTT[5] rs66826272

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