ClinVar Miner

List of variants reported as likely pathogenic for auditory system disease by Institute of Human Genetics, Klinikum rechts der Isar

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000091.4(COL4A3):c.1594G>T (p.Gly532Cys) rs779575469
NM_000091.4(COL4A3):c.3454G>C (p.Gly1152Arg) rs749383170
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.5(COL4A3):c.1183G>A (p.Gly395Arg) rs1574727988
NM_000091.5(COL4A3):c.1288G>A (p.Gly430Arg) rs1574728278
NM_000091.5(COL4A3):c.2021G>A (p.Gly674Asp) rs1574767962
NM_000091.5(COL4A3):c.2126-1G>C
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg)
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr) rs1599341718
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_033380.3(COL4A5):c.1751_1756del (p.Pro584_Gly585del) rs1603290199
NM_033380.3(COL4A5):c.2378G>A (p.Gly793Glu) rs1603293624
NM_033380.3(COL4A5):c.2465G>T (p.Gly822Val) rs1291655627
NM_033380.3(COL4A5):c.645+1G>T rs1603282474
NM_145207.3(SPATA5):c.2384C>G (p.Pro795Arg) rs1553934697
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281
NM_182476.3(COQ6):c.1079G>T (p.Arg360Leu) rs367817034

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