ClinVar Miner

List of variants in gene COL4A3 studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
COL4A3, 5-BP DEL, NT4414
COL4A3, ALU INS, EX6
COL4A3, IVS21DS, G-A, -1
GRCh37/hg19 2q36.3(chr2:228167754-228169799)
NM_000091.4(COL4A3):c.-134T>C rs886055734
NM_000091.4(COL4A3):c.-13G>C rs770803750
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.4(COL4A3):c.-16T>C rs886055736
NM_000091.4(COL4A3):c.-26G>T rs747049729
NM_000091.4(COL4A3):c.-81G>C rs886055735
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_000091.4(COL4A3):c.71C>G (p.Ala24Gly) rs184704920
NM_000091.4(COL4A3):c.73C>T (p.Pro25Ser) rs139271412
NM_000091.5(COL4A3):c.-10C>T
NM_000091.5(COL4A3):c.28C>T (p.Gln10Ter) rs1453590085
NM_000091.5(COL4A3):c.36C>T (p.Leu12=)
NM_000091.5(COL4A3):c.87+7G>T rs1358691399

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