ClinVar Miner

List of variants in gene COL4A4 reported as benign for autosomal recessive Alport syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000092.5(COL4A4):c.595-111T>C rs6436654 0.71196
NM_000092.5(COL4A4):c.2545+51A>G rs7567789 0.64631
NM_000092.5(COL4A4):c.1029+72G>A rs16823202 0.64560
NM_000092.5(COL4A4):c.658-39T>C rs12475686 0.61721
NM_000092.5(COL4A4):c.2545+46A>T rs7567796 0.61276
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555 0.57766
NM_000092.5(COL4A4):c.490-121T>G rs12465531 0.52500
NM_000092.5(COL4A4):c.3214+159A>G rs2272202 0.51677
NM_000092.5(COL4A4):c.3215-66C>T rs2272200 0.51657
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517 0.51043
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814 0.51006
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895 0.49558
NM_000092.5(COL4A4):c.4217-24C>T rs10188770 0.48798
NM_000092.5(COL4A4):c.4523-8T>C rs13419076 0.47936
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557 0.47874
NM_000092.5(COL4A4):c.3973+34T>C rs1917127 0.46756
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556 0.46753
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813 0.46716
NM_000092.5(COL4A4):c.3817+9G>C rs13423714 0.46646
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812 0.46642
NM_000092.5(COL4A4):c.3578-84T>C rs10179756 0.46595
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363 0.46565
NM_000092.5(COL4A4):c.694-72G>T rs55741079 0.44490
NM_000092.5(COL4A4):c.4091-36G>A rs3752896 0.42307
NM_000092.5(COL4A4):c.657+67A>G rs58363082 0.21126
NM_000092.5(COL4A4):c.657+62G>A rs59938187 0.20743
NM_000092.5(COL4A4):c.2164+78G>A rs11898094 0.17434
NM_000092.5(COL4A4):c.1987+91T>C rs7597336 0.16109
NM_000092.5(COL4A4):c.2969-50A>G rs2272205 0.07602
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421 0.02777
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077 0.02492
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096 0.01747
NM_000092.5(COL4A4):c.1833T>C (p.Gly611=) rs145806603 0.00479
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.3214+129G>C rs2272203

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