ClinVar Miner

List of variants in gene COL4A4 reported as benign for X-linked Alport syndrome

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000092.4(COL4A4):c.*2120delA rs56983325
NM_000092.4(COL4A4):c.*3187G>A rs56324594
NM_000092.4(COL4A4):c.*4322C>T rs1054413
NM_000092.4(COL4A4):c.*566delA rs11314253
NM_000092.4(COL4A4):c.*774dupA rs59918285
NM_000092.4(COL4A4):c.-2C>T rs2228558
NM_000092.4(COL4A4):c.1444C>T (p.Pro482Ser) rs2229814
NM_000092.4(COL4A4):c.17T>C (p.Ile6Thr) rs16823264
NM_000092.4(COL4A4):c.3011C>T (p.Pro1004Leu) rs1800517
NM_000092.4(COL4A4):c.3594G>A (p.Gly1198=) rs10203363
NM_000092.4(COL4A4):c.3684G>A (p.Lys1228=) rs2229812
NM_000092.4(COL4A4):c.3817+9G>C rs13423714
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.4(COL4A4):c.4080G>A (p.Pro1360=) rs2228556
NM_000092.4(COL4A4):c.4207T>C (p.Ser1403Pro) rs3752895
NM_000092.4(COL4A4):c.4523-8T>C rs13419076
NM_000092.4(COL4A4):c.4548A>G (p.Val1516=) rs2228555
NM_000092.4(COL4A4):c.4932C>T (p.Phe1644=) rs2228557

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