ClinVar Miner

List of variants in gene POLH reported as likely benign for DNA repair disease

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_006502.2(POLH):c.*1201C>T rs9333562
NM_006502.2(POLH):c.*1563dup rs201071335
NM_006502.2(POLH):c.*2269C>T rs140288120
NM_006502.2(POLH):c.*2513A>T rs111841811
NM_006502.2(POLH):c.*4414dup rs55760315
NM_006502.2(POLH):c.*4928T>C rs556045922
NM_006502.2(POLH):c.*639G>A rs9333557
NM_006502.2(POLH):c.*998A>G rs550215250
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_006502.2(POLH):c.1783A>G (p.Met595Val) rs9333555
NM_006502.2(POLH):c.1896A>G (p.Gln632=) rs139476900
NM_006502.2(POLH):c.2028C>T (p.Ala676=) rs140971385
NM_006502.2(POLH):c.626G>T (p.Gly209Val) rs2307456
NM_006502.2(POLH):c.698A>G (p.Asn233Ser) rs61756403
NM_006502.3(POLH):c.*1156G>A
NM_006502.3(POLH):c.*1336G>A
NM_006502.3(POLH):c.*3250G>A
NM_006502.3(POLH):c.*4959T>A
NM_006502.3(POLH):c.*546T>G
NM_006502.3(POLH):c.1572A>C (p.Gln524His)

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