ClinVar Miner

List of variants reported as uncertain significance for COFS syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319 0.00071
NM_001277058.2(ERCC6):c.2552T>C (p.Val851Ala) rs138534983 0.00031
NM_000400.4(ERCC2):c.1606G>A (p.Val536Met) rs142568756 0.00026
NM_000123.4(ERCC5):c.3554A>C (p.Lys1185Thr) rs201911663 0.00022
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975 0.00013
NM_000124.4(ERCC6):c.721C>T (p.Arg241Cys) rs142496478 0.00013
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807 0.00007
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu) rs757790912 0.00006
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu) rs201684551 0.00005
NM_000124.4(ERCC6):c.2645A>G (p.Tyr882Cys) rs116431130 0.00005
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157 0.00005
NM_000124.4(ERCC6):c.3983+4A>G rs370938370 0.00005
NM_000400.4(ERCC2):c.92C>T (p.Thr31Met) rs374798062 0.00005
NM_000124.4(ERCC6):c.2212A>C (p.Ile738Leu) rs373277796 0.00004
NM_000400.4(ERCC2):c.499G>C (p.Glu167Gln) rs367829012 0.00004
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) rs116715649 0.00003
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643 0.00003
NM_000123.4(ERCC5):c.1039G>T (p.Ala347Ser) rs759962943 0.00002
NM_000123.4(ERCC5):c.2455C>T (p.Arg819Trp) rs770975661 0.00002
NM_000123.4(ERCC5):c.293C>T (p.Ala98Val) rs375404851 0.00002
NM_000400.4(ERCC2):c.2084G>A (p.Arg695His) rs746618110 0.00002
NM_000400.4(ERCC2):c.720C>G (p.Asp240Glu) rs1213865808 0.00002
NM_000400.4(ERCC2):c.860G>A (p.Arg287His) rs765839639 0.00002
NM_000124.4(ERCC6):c.-14-2A>G rs760663515 0.00001
NM_000124.4(ERCC6):c.2037A>G (p.Gln679=) rs756713165 0.00001
NM_000124.4(ERCC6):c.2705A>G (p.Asn902Ser) rs763811839 0.00001
NM_000400.4(ERCC2):c.100G>A (p.Ala34Thr) rs768632615 0.00001
NM_000400.4(ERCC2):c.1553G>A (p.Arg518Gln) rs1039034665 0.00001
NM_000124.4(ERCC6):c.1820A>T (p.Lys607Met) rs200832611
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173

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