ClinVar Miner

List of variants reported as benign for coloboma

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001080477.4(TENM3):c.3863-26G>C rs13130747 0.55028
NM_000193.4(SHH):c.301-49G>A rs1233555 0.48163
NM_001080477.4(TENM3):c.1791T>C (p.Ser597=) rs2871328 0.41875
NM_182894.3(VSX2):c.471C>T (p.Ser157=) rs35435463 0.38441
NM_001080477.4(TENM3):c.3379+25G>C rs2309769 0.35017
NM_001080477.4(TENM3):c.3629+21G>A rs7676674 0.34515
NM_182894.3(VSX2):c.*579C>T rs12588074 0.18128
NM_001080477.4(TENM3):c.3957C>T (p.Gly1319=) rs17263582 0.17773
NM_182894.3(VSX2):c.*1302G>A rs8020424 0.07204
NM_182894.3(VSX2):c.*455C>T rs73309254 0.07191
NM_182894.3(VSX2):c.831G>A (p.Leu277=) rs62006815 0.02860
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809 0.02643
NM_182894.3(VSX2):c.871G>A (p.Asp291Asn) rs75395981 0.01619
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875 0.00603
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014 0.00061
NM_001001557.4(GDF6):c.921G>C (p.Ala307=) rs545149100 0.00024
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) rs148321868 0.00022
NM_001001557.4(GDF6):c.407-20A>C rs536565151 0.00016
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) rs561421783 0.00007
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr) rs368498747 0.00006
NM_001001557.4(GDF6):c.902A>G (p.Glu301Gly) rs768532556 0.00006
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg) rs888138096 0.00002
NM_001001557.4(GDF6):c.245C>T (p.Ala82Val) rs988646683 0.00001
NM_001001557.4(GDF6):c.701G>T (p.Arg234Leu) rs748092776 0.00001
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) rs780167779 0.00001
NM_001001557.4(GDF6):c.876G>C (p.Glu292Asp) rs1401531865 0.00001
NM_005689.4(ABCB6):c.1511T>C (p.Val504Ala) rs763768429 0.00001
NM_001001557.4(GDF6):c.1204A>G (p.Ile402Val)
NM_001001557.4(GDF6):c.125G>C (p.Gly42Ala) rs121909354
NM_001001557.4(GDF6):c.215A>G (p.Gln72Arg)
NM_001001557.4(GDF6):c.407-10dup
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln) rs1444302456
NM_001001557.4(GDF6):c.980C>A (p.Pro327His) rs121909356
NM_001001557.4(GDF6):c.995G>T (p.Arg332Leu) rs1812445302
NM_001368894.2(PAX6):c.*20_*21del (p.Ter437=) rs759391101
NM_001368894.2(PAX6):c.*21dup (p.Ter437=) rs759391101
NM_005689.4(ABCB6):c.316T>C (p.Tyr106His)
NM_006744.4(RBP4):c.356-25G>C rs12265684

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