ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as benign for autosomal recessive Alport syndrome

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 11
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NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=) rs10205042
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.5(COL4A3):c.1721C>T (p.Pro574Leu) rs28381984
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro) rs10178458
NM_000091.5(COL4A3):c.485A>G (p.Glu162Gly) rs6436669
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767

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