ClinVar Miner

List of variants in gene COL4A3 studied for autosomal recessive Alport syndrome

Included ClinVar conditions (3):
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Gene type:
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Total variants: 8
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HGVS dbSNP
COL4A3, 5-BP DEL, NT4414
COL4A3, ALU INS, EX6
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
NM_000091.4(COL4A3):c.1A>C (p.Met1Leu) rs1396602090
NM_000091.4(COL4A3):c.2T>C (p.Met1Thr) rs1553725815
NM_000091.4(COL4A3):c.39_47dup (p.Pro15_Leu17dup) rs1476762825
NM_000091.4(COL4A3):c.40_63del (p.Leu14_Leu21del) rs876657397
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085

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