ClinVar Miner

List of variants studied for COFS syndrome by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.138T>C (p.His46=) rs1047768 0.59353
NM_000123.4(ERCC5):c.2879+14C>T rs4150360 0.42594
NM_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869 0.04366
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.760A>G (p.Met254Val) rs1047769 0.02485
NM_000123.4(ERCC5):c.960C>T (p.Asp320=) rs4150314 0.00931
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299 0.00370
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=) rs9518857 0.00270
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=) rs148856875 0.00196
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=) rs150791877 0.00094
NM_000123.4(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319 0.00071
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570

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