ClinVar Miner

List of variants in gene combination BIVM-ERCC5, ERCC5 reported as benign for COFS syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg) rs9514066 0.99822
NM_000123.3(ERCC5):c.-419A>G rs751402 0.75753
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_000123.4(ERCC5):c.3310G>C (p.Asp1104His) rs17655 0.30419
NM_000123.4(ERCC5):c.-72C>T rs2296148 0.07351
NM_000123.4(ERCC5):c.264+7G>A rs2020915 0.06728
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.*89G>A rs4150390 0.02491
NM_000123.4(ERCC5):c.760A>G (p.Met254Val) rs1047769 0.02485
NM_000123.4(ERCC5):c.-74G>A rs3218736 0.01632
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_000123.4(ERCC5):c.433G>A (p.Val145Ile) rs4987063 0.00693
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372 0.00552
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.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000123.4(ERCC5):c.788G>A (p.Arg263Gln) rs61749896

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