ClinVar Miner

List of variants reported as benign for COFS syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 59
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HGVS dbSNP
NM_000123.3(ERCC5):c.*84G>A rs873601
NM_000123.3(ERCC5):c.*89G>A rs4150390
NM_000123.3(ERCC5):c.-200G>C rs76752300
NM_000123.3(ERCC5):c.-242T>C rs2296147
NM_000123.3(ERCC5):c.-419A>G rs751402
NM_000123.3(ERCC5):c.-72C>T rs2296148
NM_000123.3(ERCC5):c.-74G>A rs3218736
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.1440C>T (p.His480=) rs4150316
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.2100C>A (p.Leu700=) rs2228959
NM_000123.3(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342
NM_000123.3(ERCC5):c.264+7G>A rs2020915
NM_000123.3(ERCC5):c.2879+14C>T rs4150360
NM_000123.3(ERCC5):c.3157= (p.Arg1053=) rs9514066
NM_000123.3(ERCC5):c.3239G>A (p.Arg1080Gln) rs587778291
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.429C>G (p.Leu143=) rs4140390
NM_000123.3(ERCC5):c.433G>A (p.Val145Ile) rs4987063
NM_000123.3(ERCC5):c.640C>T (p.Arg214Cys) rs56255799
NM_000123.3(ERCC5):c.641G>A (p.Arg214His) rs146833751
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=)
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=)
NM_000124.4(ERCC6):c.*1275C>G rs182177140
NM_000124.4(ERCC6):c.*1830T>C rs11101137
NM_000124.4(ERCC6):c.*1872C>T rs115281814
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327
NM_000124.4(ERCC6):c.*2137A>G rs114723899
NM_000124.4(ERCC6):c.*2946C>T
NM_000124.4(ERCC6):c.*3395A>C
NM_000124.4(ERCC6):c.*379C>G rs4253234
NM_000124.4(ERCC6):c.*3823T>C
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.1146G>A (p.Glu382=) rs4253045
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.2875G>T (p.Val959Leu) rs190863815
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207
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.3774A>G (p.Lys1258=) rs35756610
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227
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
NM_001983.4(ERCC1):c.*863T>C rs3212989

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