ClinVar Miner

List of variants studied for hereditary photodermatosis by 3billion

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000380.4(XPA):c.682C>T (p.Arg228Ter) rs104894132 0.00033
NM_004628.5(XPC):c.1243C>T (p.Arg415Ter) rs757958943 0.00005
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr) rs201382232 0.00004
NM_000380.4(XPA):c.619C>T (p.Arg207Ter) rs104894133 0.00002
NM_000190.4(HMBS):c.673C>T (p.Arg225Ter) rs1325031228 0.00001
NM_000380.4(XPA):c.390-1G>C rs750218942 0.00001
NM_004260.4(RECQL4):c.2554_2565dup (p.Ala852_Cys855dup) rs1363648649 0.00001
NM_000057.4(BLM):c.99-8_112del rs2151146678
NM_000107.3(DDB2):c.1187C>A (p.Ser396Ter) rs781655324
NM_000107.3(DDB2):c.1234+1del rs2540429529
NM_000107.3(DDB2):c.985C>T (p.His329Tyr) rs1591001619
NM_000123.4(ERCC5):c.380+3A>T rs2501534840
NM_000140.5(FECH):c.590C>T (p.Ser197Phe) rs1327813679
NM_000140.5(FECH):c.863T>C (p.Met288Thr)
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) rs998842815
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) rs1592220915
NM_000375.3(UROS):c.7G>T (p.Val3Phe) rs773301339
NM_000380.4(XPA):c.389+1G>A rs1554701931
NM_004260.4(RECQL4):c.988dup (p.Ala330fs) rs2130718434
NM_004628.5(XPC):c.1643_1644del (p.Val548fs) rs754532049
NM_004628.5(XPC):c.2216_2217del (p.Glu739fs) rs1559369237
NM_006502.3(POLH):c.1561C>T (p.Gln521Ter) rs2127821940

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