ClinVar Miner

List of variants studied 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: 15
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NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000124.4(ERCC6):c.1357C>T (p.Arg453Ter) rs121917902
NM_000124.4(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901
NM_000124.4(ERCC6):c.2830-2A>G rs373227647
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000124.4(ERCC6):c.4186A>G (p.Arg1396Gly) rs745352643
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_000400.3(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) rs121913026

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