ClinVar Miner

List of variants reported as likely benign for hereditary photodermatosis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn) rs1800435 0.06273
NM_004628.5(XPC):c.1362T>C (p.Asp454=) rs3731128 0.01075
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_000380.4(XPA):c.766A>G (p.Met256Val) rs57519506 0.00899
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_022662.4(ANAPC1):c.681T>C (p.Ser227=) rs145229082 0.00632
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00388
NM_177417.3(KLC3):c.*100C>T rs142103003 0.00388
NM_000123.4(ERCC5):c.641G>A (p.Arg214His) rs146833751 0.00341
NM_000123.4(ERCC5):c.3239G>A (p.Gly1080Glu) rs4150388 0.00250
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_001122764.3(PPOX):c.1206A>C (p.Gly402=) rs112762537 0.00140
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_000400.4(ERCC2):c.1737C>T (p.Val579=) rs3916876 0.00096
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=) rs139406689 0.00060
NM_006502.3(POLH):c.1433C>T (p.Thr478Met) rs9296419 0.00048
NM_000122.2(ERCC3):c.1730+16T>G rs202086538 0.00036
NM_000057.4(BLM):c.2115T>C (p.Val705=) rs142787700 0.00025
NM_000400.4(ERCC2):c.1317C>T (p.Asp439=) rs200588470 0.00013
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644 0.00010
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) rs768991485 0.00006
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_000057.4(BLM):c.959+17A>G rs1263627625 0.00002
NM_000124.4(ERCC6):c.804A>G (p.Ala268=) rs777672678 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000057.4(BLM):c.387_389del (p.Lys130del) rs587778105
NM_000082.4(ERCC8):c.390T>C (p.Asn130=) rs367632666
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) rs2020961

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