ClinVar Miner

List of variants reported as uncertain significance for Sorsby fundus dystrophy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000362.5(TIMP3):c.-270G>T rs532843825 0.00175
NM_000362.5(TIMP3):c.-274G>C rs1001328821 0.00098
NM_000362.5(TIMP3):c.*1796G>A rs866997954 0.00070
NM_000362.5(TIMP3):c.*2519T>G rs747899240 0.00051
NM_000362.5(TIMP3):c.*795A>G rs886057438 0.00034
NM_000362.5(TIMP3):c.*2763C>T rs774714843 0.00027
NM_000362.5(TIMP3):c.*1115C>T rs761521955 0.00023
NM_000362.5(TIMP3):c.*2424G>A rs780100439 0.00021
NM_000362.5(TIMP3):c.*541T>C rs886057437 0.00019
NM_003490.4(SYN3):c.711+63320C>T rs886057428 0.00019
NM_000362.5(TIMP3):c.*990G>A rs886057439 0.00017
NM_000362.5(TIMP3):c.*213dup rs886057435 0.00016
NM_000362.5(TIMP3):c.*3246G>A rs578137750 0.00016
NM_003490.4(SYN3):c.711+63243G>A rs886057430 0.00015
NM_000362.5(TIMP3):c.*2844C>T rs886057450 0.00013
NM_000362.5(TIMP3):c.*1802A>G rs1024972413 0.00012
NM_003490.4(SYN3):c.711+63470T>G rs908307638 0.00012
NM_000362.5(TIMP3):c.*930T>C rs190547323 0.00011
NM_003490.4(SYN3):c.711+63303G>T rs886057429 0.00010
NM_000362.5(TIMP3):c.*2566C>T rs530686310 0.00009
NM_000362.5(TIMP3):c.*506G>A rs200570563 0.00009
NM_000362.5(TIMP3):c.*1681T>C rs760355269 0.00008
NM_000362.5(TIMP3):c.*1179T>C rs536794682 0.00007
NM_000362.5(TIMP3):c.*232T>C rs757367146 0.00007
NM_003490.4(SYN3):c.711+63995G>C rs886057425 0.00007
NM_000362.5(TIMP3):c.*1504G>A rs920798325 0.00006
NM_000362.5(TIMP3):c.*529G>A rs886057436 0.00006
NM_003490.4(SYN3):c.711+64049C>G rs186649312 0.00006
NM_000362.5(TIMP3):c.*1554del rs886057442 0.00005
NM_000362.5(TIMP3):c.*1792A>G rs886057445 0.00005
NM_000362.5(TIMP3):c.*1929A>G rs528425438 0.00004
NM_000362.5(TIMP3):c.*690C>G rs1462914646 0.00003
NM_000362.5(TIMP3):c.*1188C>T rs556616090 0.00002
NM_000362.5(TIMP3):c.-284G>C rs1219106315 0.00002
NM_000362.5(TIMP3):c.*1935G>A rs539507128 0.00001
NM_000362.5(TIMP3):c.*3521C>T rs1223759424 0.00001
NM_000362.5(TIMP3):c.-105G>C rs886057432 0.00001
NM_000362.5(TIMP3):c.121+4A>G rs886057433 0.00001
NM_003490.4(SYN3):c.711+63673C>T rs926657180 0.00001
NM_003490.4(SYN3):c.711+64084C>T rs886057424 0.00001
NM_000362.5(TIMP3):c.*105C>A rs577017044
NM_000362.5(TIMP3):c.*1297T>C rs886057440
NM_000362.5(TIMP3):c.*1536del rs886057441
NM_000362.5(TIMP3):c.*1552_*1553del rs766674644
NM_000362.5(TIMP3):c.*1553del rs766674644
NM_000362.5(TIMP3):c.*1700_*1703del rs550747276
NM_000362.5(TIMP3):c.*1783A>G rs886057444
NM_000362.5(TIMP3):c.*1812dup rs397690270
NM_000362.5(TIMP3):c.*1841C>A rs2048528507
NM_000362.5(TIMP3):c.*1957A>G rs2048532283
NM_000362.5(TIMP3):c.*2012_*2013insAAA rs886057447
NM_000362.5(TIMP3):c.*2014C>A rs111794229
NM_000362.5(TIMP3):c.*2152G>T rs1291105436
NM_000362.5(TIMP3):c.*2280T>C rs886057448
NM_000362.5(TIMP3):c.*2314C>T rs886057449
NM_000362.5(TIMP3):c.*2698A>G rs2048557431
NM_000362.5(TIMP3):c.*2817T>C rs769981298
NM_000362.5(TIMP3):c.*2943C>T rs766333710
NM_000362.5(TIMP3):c.*3127T>C rs765621470
NM_000362.5(TIMP3):c.*320G>T rs2048482210
NM_000362.5(TIMP3):c.*3221A>G rs868497627
NM_000362.5(TIMP3):c.*3233T>A rs886057451
NM_000362.5(TIMP3):c.*3343AG[1] rs767627836
NM_000362.5(TIMP3):c.*3652del rs886057454
NM_000362.5(TIMP3):c.*541T>A rs886057437
NM_000362.5(TIMP3):c.*854G>A rs993022300
NM_000362.5(TIMP3):c.*87T>C rs886057434
NM_000362.5(TIMP3):c.171C>G (p.Phe57Leu) rs762299337
NM_000362.5(TIMP3):c.439-12A>T rs569856603
NM_000362.5(TIMP3):c.454_455insGTA (p.Tyr152delinsCysAsn) rs2146296204
NM_000362.5(TIMP3):c.509C>G (p.Ser170Cys) rs1298381884
NM_003490.4(SYN3):c.711+63217C>T rs886057431
NM_003490.4(SYN3):c.711+63346G>A rs886057427
NM_003490.4(SYN3):c.711+63401G>A rs1602181239
NM_003490.4(SYN3):c.711+63597A>G rs886057426

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