ClinVar Miner

List of variants in gene COL4A2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875 0.00869
NM_001846.4(COL4A2):c.1979-6C>T rs190632602 0.00465
NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln) rs184812559 0.00356
NM_001846.4(COL4A2):c.4929G>A (p.Pro1643=) rs7320105 0.00302
NM_001846.4(COL4A2):c.3346+7A>G rs201020737 0.00153
NM_001846.4(COL4A2):c.2484T>C (p.Pro828=) rs181706751 0.00151
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=) rs201956616 0.00088
NM_001846.4(COL4A2):c.-87G>A rs895274784 0.00072
NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=) rs201510187 0.00032
NM_001846.4(COL4A2):c.4428G>A (p.Pro1476=) rs371857202 0.00027
NM_001846.4(COL4A2):c.3135C>T (p.Pro1045=) rs187735087 0.00016
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro) rs756772866 0.00014
NM_001846.4(COL4A2):c.1748A>G (p.Asp583Gly) rs368207474 0.00009
NM_001846.4(COL4A2):c.5070C>T (p.Ala1690=) rs199809827 0.00009
NM_001846.4(COL4A2):c.3246C>T (p.Gly1082=) rs373937864 0.00008
NM_001846.4(COL4A2):c.1758C>T (p.Pro586=) rs765662785 0.00004
NM_001846.4(COL4A2):c.1557C>T (p.Asp519=) rs781646506 0.00001
NM_001846.4(COL4A2):c.5076G>A (p.Thr1692=) rs376020578 0.00001
NM_001846.4(COL4A2):c.1340-101T>G
NM_001846.4(COL4A2):c.1340-192G>C
NM_001846.4(COL4A2):c.1340-439G>A
NM_001846.4(COL4A2):c.1340-47C>T
NM_001846.4(COL4A2):c.1623C>T (p.Pro541=)
NM_001846.4(COL4A2):c.2097T>C (p.Gly699=)
NM_001846.4(COL4A2):c.2820C>T (p.Pro940=)
NM_001846.4(COL4A2):c.3486G>A (p.Ser1162=)
NM_001846.4(COL4A2):c.3699G>A (p.Glu1233=)
NM_001846.4(COL4A2):c.477C>T (p.Pro159=)

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