ClinVar Miner

List of variants reported as likely benign for type 2 collagenopathy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_004273.5(CHST3):c.*1899G>A rs17297481 0.08826
NM_004273.5(CHST3):c.*3555G>A rs4148951 0.04774
NM_004273.5(CHST3):c.*3039C>T rs74145519 0.04770
NM_004273.5(CHST3):c.*4770G>A rs4148953 0.04304
NM_004273.5(CHST3):c.*1370G>A rs60924680 0.03944
NM_004273.5(CHST3):c.*2026A>G rs115545740 0.03755
NM_004273.5(CHST3):c.*1006T>C rs116018996 0.02989
NM_004273.5(CHST3):c.-274G>T rs146305825 0.02017
NM_004273.5(CHST3):c.*1425C>T rs80269486 0.01869
NM_004273.5(CHST3):c.*1101T>G rs116999241 0.01828
NM_004273.5(CHST3):c.*1426T>C rs76062174 0.01720
NM_004273.5(CHST3):c.*255C>T rs114569872 0.01583
NM_004273.5(CHST3):c.*483G>A rs113283291 0.01271
NM_004273.5(CHST3):c.*3666G>A rs113342172 0.01185
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_004273.5(CHST3):c.*2391C>T rs116391584 0.00817
NM_004273.5(CHST3):c.*1823G>C rs116289781 0.00816
NM_004273.5(CHST3):c.*2163A>G rs114563668 0.00816
NM_004273.5(CHST3):c.*2826G>A rs114457501 0.00816
NM_004273.5(CHST3):c.*3890C>T rs79559408 0.00815
NM_004273.5(CHST3):c.*4095A>G rs114800040 0.00815
NM_004273.5(CHST3):c.*203A>G rs77359818 0.00814
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769 0.00730
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=) rs35504014 0.00278
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_001844.5(COL2A1):c.2046C>T (p.Asp682=) rs41263851 0.00198
NM_001844.5(COL2A1):c.3003+9G>A rs200403247 0.00159
NM_001844.5(COL2A1):c.2130C>T (p.Pro710=) rs35656892 0.00142
NM_001844.5(COL2A1):c.3534T>C (p.Asn1178=) rs34613777 0.00138
NM_004273.5(CHST3):c.*7C>T rs202242499 0.00123
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_001844.5(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847 0.00073
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_001844.5(COL2A1):c.*28C>T rs41272775 0.00051
NM_001844.5(COL2A1):c.3327+3G>A rs192229438 0.00031
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00026
NM_001844.5(COL2A1):c.1023+3G>A rs374570848 0.00016
NM_001844.5(COL2A1):c.2854C>A (p.Pro952Thr) rs140740708 0.00015
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001844.5(COL2A1):c.17C>A (p.Ala6Asp) rs369359592 0.00013
NM_001844.5(COL2A1):c.2163C>T (p.Leu721=) rs141375467 0.00005
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala) rs748511528 0.00002
NM_001011658.4(TRAPPC2):c.*1848dup rs200158505
NM_004273.5(CHST3):c.*1447C>A rs76808415
NM_004273.5(CHST3):c.*1978GT[4] rs150678709
NM_004273.5(CHST3):c.*2126A>C rs7072219
NM_004273.5(CHST3):c.*2718G>A rs115489836
NM_004273.5(CHST3):c.*3090T>A rs76750860
NM_004273.5(CHST3):c.*3701AG[1] rs200054447
NM_004273.5(CHST3):c.*3884A>G rs77908871
NM_004273.5(CHST3):c.-270del rs538907004

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