ClinVar Miner

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

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Total variants: 35
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HGVS dbSNP
NM_000092.5(COL4A4):c.1029+72G>A
NM_000092.5(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.5(COL4A4):c.1987+91T>C rs7597336
NM_000092.5(COL4A4):c.2164+78G>A rs11898094
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.5(COL4A4):c.2545+46A>T
NM_000092.5(COL4A4):c.2545+51A>G
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.5(COL4A4):c.2969-50A>G rs2272205
NM_000092.5(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.5(COL4A4):c.3214+129G>C
NM_000092.5(COL4A4):c.3214+159A>G
NM_000092.5(COL4A4):c.3215-66C>T
NM_000092.5(COL4A4):c.3578-84T>C
NM_000092.5(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.5(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.5(COL4A4):c.3817+9G>C rs13423714
NM_000092.5(COL4A4):c.3973+34T>C
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.5(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.5(COL4A4):c.4091-36G>A
NM_000092.5(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.5(COL4A4):c.4217-24C>T
NM_000092.5(COL4A4):c.4523-8T>C rs13419076
NM_000092.5(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.5(COL4A4):c.490-121T>G
NM_000092.5(COL4A4):c.4932C>T (p.Phe1644=) rs2228557
NM_000092.5(COL4A4):c.595-111T>C
NM_000092.5(COL4A4):c.657+62G>A rs59938187
NM_000092.5(COL4A4):c.657+67A>G rs58363082
NM_000092.5(COL4A4):c.658-39T>C
NM_000092.5(COL4A4):c.694-72G>T
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=) rs34509421

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