ClinVar Miner

List of variants reported as uncertain significance for Marshall syndrome

Included ClinVar conditions (1):
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Total variants: 42
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HGVS dbSNP
NM_001854.3(COL11A1):c.1792-12_1792-10dupATG rs71752747
NM_001854.3(COL11A1):c.1792-15_1792-10dupATGATG rs71752747
NM_001854.3(COL11A1):c.4303-13dupT rs35232764
NM_001854.3(COL11A1):c.4357-16dupT rs748850423
NM_001854.3(COL11A1):c.652-6dupT rs36076089
NM_001854.3(COL11A1):c.652-7_652-6dupTT rs36076089
NM_001854.4(COL11A1):c.*1239T>C rs886044969
NM_001854.4(COL11A1):c.*1488G>C rs886044968
NM_001854.4(COL11A1):c.*240A>G rs886044972
NM_001854.4(COL11A1):c.*628dup rs532806397
NM_001854.4(COL11A1):c.*715A>G rs886044971
NM_001854.4(COL11A1):c.*953G>C rs886044970
NM_001854.4(COL11A1):c.-198_-195del rs886044981
NM_001854.4(COL11A1):c.-220T>C rs886044982
NM_001854.4(COL11A1):c.-231dup rs886044983
NM_001854.4(COL11A1):c.-258C>A rs886044984
NM_001854.4(COL11A1):c.-75C>T rs886044980
NM_001854.4(COL11A1):c.107-12C>T rs200564243
NM_001854.4(COL11A1):c.1489-5C>A rs370997745
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile) rs199835797
NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg) rs199875795
NM_001854.4(COL11A1):c.2143-15T>C rs886044979
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161
NM_001854.4(COL11A1):c.2655+3A>G rs886044978
NM_001854.4(COL11A1):c.318A>G (p.Lys106=) rs150668398
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) rs144562769
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=) rs768553239
NM_001854.4(COL11A1):c.3358G>A (p.Gly1120Ser) rs370589018
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala) rs375675171
NM_001854.4(COL11A1):c.35G>C (p.Arg12Pro) rs767496065
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu) rs767905237
NM_001854.4(COL11A1):c.3817-25_3817-24dup rs34228277
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser) rs200496207
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu) rs558548172
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=) rs3753842
NM_001854.4(COL11A1):c.4728G>T (p.Met1576Ile) rs886044974
NM_001854.4(COL11A1):c.4906A>G (p.Lys1636Glu) rs886044973
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val) rs779282500
NM_001854.4(COL11A1):c.828A>G (p.Ala276=) rs764926559
NM_001854.4(COL11A1):c.926A>T (p.Tyr309Phe) rs766508371

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