ClinVar Miner

List of variants reported as benign for COFS syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000124.4(ERCC6):c.*1830T>C rs11101137
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327
NM_000124.4(ERCC6):c.*379C>G rs4253234
NM_000124.4(ERCC6):c.*53T>C rs4253231
NM_000124.4(ERCC6):c.*933G>A rs3750751
NM_000124.4(ERCC6):c.-78G>T rs4253005
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.4(ERCC6):c.1821+7C>T rs4253132
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027

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