ClinVar Miner

List of variants reported as likely pathogenic by Polak associated Lab, IMAGINE Institute

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003235.5(TG):c.5299_5301del (p.Asp1767del) rs112749206 0.01445
NM_001206744.2(TPO):c.1768+1_1768+9dup rs1385139268
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_003235.5(TG):c.2134dup (p.Ala712fs) rs1815591671
NM_003235.5(TG):c.2234dup (p.Leu746fs) rs1815680018
NM_003235.5(TG):c.3452del (p.Val1151fs) rs766130576

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