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: 69
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg) rs9514066 0.99822
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_000123.3(ERCC5):c.-419A>G rs751402 0.75753
NM_000400.4(ERCC2):c.1758+32C>G rs238417 0.66337
NM_000400.4(ERCC2):c.468A>C (p.Arg156=) rs238406 0.64842
NM_000400.4(ERCC2):c.247-35G>A rs1799783 0.64393
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_000123.4(ERCC5):c.*84G>A rs873601 0.59033
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_000123.3(ERCC5):c.-242T>C rs2296147 0.37387
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln) rs13181 0.31719
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn) rs1799793 0.26310
NM_000400.4(ERCC2):c.2133C>T (p.Asp711=) rs1052555 0.25433
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_000124.4(ERCC6):c.2382+33T>C rs3750749 0.10128
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000123.4(ERCC5):c.-72C>T rs2296148 0.07351
NM_000123.4(ERCC5):c.264+7G>A rs2020915 0.06728
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_000123.4(ERCC5):c.1440C>T (p.His480=) rs4150316 0.03429
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg) rs4150313 0.02531
NM_000123.4(ERCC5):c.429C>G (p.Leu143=) rs4140390 0.02517
NM_000123.4(ERCC5):c.*89G>A rs4150390 0.02491
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_000123.4(ERCC5):c.-74G>A rs3218736 0.01632
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525 0.01573
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_000123.4(ERCC5):c.-200G>C rs76752300 0.00995
NM_000123.4(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342 0.00934
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314 0.00931
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_001983.4(ERCC1):c.843+32G>A rs116640350 0.00729
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=) rs73573973 0.00694
NM_000123.4(ERCC5):c.433G>A (p.Val145Ile) rs4987063 0.00693
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372 0.00552
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_000124.4(ERCC6):c.*1275C>G rs182177140 0.00456
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
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_000123.4(ERCC5):c.2100C>A (p.Leu700=) rs2228959 0.00243
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815 0.00075
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219 0.00009
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896
NM_000124.4(ERCC6):c.*2946C>T rs146529081
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610

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