ClinVar Miner

List of variants in gene POLH studied for Xeroderma pigmentosum

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_006502.3(POLH):c.*1563dup rs201071335 0.01967
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
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.738C>T (p.Leu246=) rs145530456 0.00049
NM_006502.3(POLH):c.2028C>T (p.Ala676=) rs140971385 0.00045
NM_006502.3(POLH):c.1181A>G (p.Lys394Arg) rs149030396 0.00043
NM_006502.3(POLH):c.*4531_*4532del rs767288700 0.00029
NM_006502.3(POLH):c.1299C>A (p.Ala433=) rs140331414 0.00029
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_006502.3(POLH):c.1473G>A (p.Gln491=) rs142864589 0.00021
NM_006502.3(POLH):c.413C>T (p.Ser138Leu) rs142827517 0.00006
NM_006502.3(POLH):c.1491G>A (p.Ser497=) rs145050695 0.00004
NM_006502.3(POLH):c.210G>T (p.Lys70Asn) rs149295738 0.00004
NM_006502.3(POLH):c.1078dup (p.Asp360fs) rs1277794845 0.00003
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.467C>T (p.Thr156Met) rs139742736 0.00002
NM_006502.3(POLH):c.490G>T (p.Glu164Ter) rs767433001 0.00002
NM_006502.3(POLH):c.*1219A>T rs886061447 0.00001
NM_006502.3(POLH):c.1266T>C (p.Leu422=) rs758340317 0.00001
NM_006502.3(POLH):c.764+2dup rs1400692798 0.00001
NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del
NM_006502.3(POLH):c.*2042_*2043dup rs368089629
NM_006502.3(POLH):c.*2043dup rs368089629
NM_006502.3(POLH):c.*2812_*2820delinsCC rs886061460
NM_006502.3(POLH):c.*3051_*3052del rs568828810
NM_006502.3(POLH):c.*4388TATTT[1] rs565512423
NM_006502.3(POLH):c.*4413_*4414dup rs55760315
NM_006502.3(POLH):c.*4414del rs55760315
NM_006502.3(POLH):c.*4414dup rs55760315
NM_006502.3(POLH):c.*4806del rs886061469
NM_006502.3(POLH):c.*4807del rs886061470
NM_006502.3(POLH):c.*4837dup rs60046548
NM_006502.3(POLH):c.*5071AG[2] rs886061473
NM_006502.3(POLH):c.*5142_*5146del rs886061474
NM_006502.3(POLH):c.*5936del rs200163087
NM_006502.3(POLH):c.1000C>G (p.Arg334Gly) rs9333548
NM_006502.3(POLH):c.112C>G (p.Gln38Glu) rs2127773194
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) rs747834463
NM_006502.3(POLH):c.134G>A (p.Gly45Asp) rs2127773221
NM_006502.3(POLH):c.1418_1423del (p.Thr473_Lys474del) rs1276240965
NM_006502.3(POLH):c.1635T>G (p.Asn545Lys) rs2127822032
NM_006502.3(POLH):c.1656C>G (p.Pro552=) rs148589983
NM_006502.3(POLH):c.1870C>G (p.Pro624Ala) rs886061437
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.2119T>G (p.Phe707Val) rs2127822760
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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