ClinVar Miner

List of variants in gene combination COL4A3, MFF-DT reported as likely benign for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP
NM_000091.4(COL4A3):c.*2145A>C rs115394347
NM_000091.4(COL4A3):c.*2182C>T rs114535536
NM_000091.4(COL4A3):c.*2228T>C rs367785196
NM_000091.4(COL4A3):c.*2837_*2839delATA rs137947510
NM_000091.4(COL4A3):c.*811A>C rs116568659
NM_000091.4(COL4A3):c.112C>G (p.Gln38Glu) rs201607115
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
NM_000091.4(COL4A3):c.325-18G>T rs777117192
NM_000091.4(COL4A3):c.3566-10T>C rs114719458
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.3945A>G (p.Pro1315=) rs189574905
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
NM_000091.4(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408
NM_000091.4(COL4A3):c.4482G>A (p.Leu1494=) rs181952966
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.516C>T (p.Asp172=) rs759455097
NM_000091.5(COL4A3):c.*1360T>A
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.1353C>T (p.His451=) rs189364374
NM_000091.5(COL4A3):c.1408+35C>T
NM_000091.5(COL4A3):c.1437C>T (p.Cys479=) rs748691382
NM_000091.5(COL4A3):c.145-99C>T
NM_000091.5(COL4A3):c.1674C>T (p.Leu558=) rs762241502
NM_000091.5(COL4A3):c.1863A>G (p.Gln621=) rs771390525
NM_000091.5(COL4A3):c.2021-54T>C
NM_000091.5(COL4A3):c.2133A>G (p.Gln711=) rs527383673
NM_000091.5(COL4A3):c.222G>A (p.Pro74=) rs187950806
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.5(COL4A3):c.280-40T>G
NM_000091.5(COL4A3):c.3094T>C (p.Leu1032=) rs372423505
NM_000091.5(COL4A3):c.315T>C (p.Pro105=) rs371460434
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549
NM_000091.5(COL4A3):c.3690C>T (p.Pro1230=) rs375442737
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248
NM_000091.5(COL4A3):c.3882+132T>C
NM_000091.5(COL4A3):c.4449C>T (p.His1483=) rs140672401
NM_000091.5(COL4A3):c.4756-68A>G
NM_000091.5(COL4A3):c.4756-69A>G
NM_000091.5(COL4A3):c.4756-74A>C
NM_000091.5(COL4A3):c.687+103T>A
NM_000091.5(COL4A3):c.828+84T>G
NM_000091.5(COL4A3):c.889-39T>C

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