ClinVar Miner

List of variants in gene POLH reported as likely benign for Xeroderma pigmentosum

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_006502.3(POLH):c.*1563dup rs201071335 0.01967
NM_006502.3(POLH):c.1572A>C (p.Gln524His) rs138752565 0.00198
NM_006502.3(POLH):c.2024C>A (p.Ser675Tyr) rs151095678 0.00178
NM_006502.3(POLH):c.815T>C (p.Ile272Thr) rs147712217 0.00055
NM_006502.3(POLH):c.2028C>T (p.Ala676=) rs140971385 0.00045
NM_006502.3(POLH):c.1299C>A (p.Ala433=) rs140331414 0.00029
NM_006502.3(POLH):c.1473G>A (p.Gln491=) rs142864589 0.00021
NM_006502.3(POLH):c.1491G>A (p.Ser497=) rs145050695 0.00004
NM_006502.3(POLH):c.1833A>G (p.Lys611=) rs748367351 0.00002
NM_006502.3(POLH):c.1959T>C (p.Tyr653=) rs201357691 0.00002
NM_006502.3(POLH):c.*4414dup rs55760315
NM_006502.3(POLH):c.1000C>G (p.Arg334Gly) rs9333548
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) rs747834463
NM_006502.3(POLH):c.1656C>G (p.Pro552=) rs148589983
NM_006502.3(POLH):c.1896A>G (p.Gln632=) rs139476900
NM_006502.3(POLH):c.1977G>A (p.Leu659=) rs1768186117
NM_006502.3(POLH):c.424T>C (p.Leu142=) rs997248275
NM_006502.3(POLH):c.723G>A (p.Gly241=) rs781009488
NM_006502.3(POLH):c.884+20dup rs199876593

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