ClinVar Miner

List of variants reported as benign for Sorsby fundus dystrophy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000362.5(TIMP3):c.249T>C (p.His83=) rs9862 0.59578
NM_003490.4(SYN3):c.711+63827T>C rs2234921 0.39279
NM_000362.5(TIMP3):c.*1958T>C rs1427384 0.29560
NM_000362.5(TIMP3):c.*2924T>C rs1065314 0.28775
NM_000362.5(TIMP3):c.*2686C>T rs2267184 0.27418
NM_000362.5(TIMP3):c.*2853G>A rs2267185 0.10179
NM_000362.5(TIMP3):c.261C>T (p.Ser87=) rs11547635 0.08189
NM_000362.5(TIMP3):c.*3413C>T rs11287 0.01666
NM_000362.5(TIMP3):c.*2668T>C rs79718825 0.01641
NM_000362.5(TIMP3):c.*1900C>T rs5998648 0.01622
NM_000362.5(TIMP3):c.*2544G>A rs115010560 0.01617
NM_000362.5(TIMP3):c.*538G>T rs56131109 0.01384
NM_000362.5(TIMP3):c.*3010G>A rs73885121 0.01002
NM_000362.5(TIMP3):c.-117G>A rs191293675 0.00771
NM_000362.5(TIMP3):c.*2103C>T rs56214022 0.00488
NM_000362.5(TIMP3):c.*3282C>T rs564138368 0.00306
NM_000362.5(TIMP3):c.*2356C>T rs77049244 0.00298
NM_000362.5(TIMP3):c.*2413G>T rs141846470 0.00239
NM_000362.5(TIMP3):c.516C>T (p.Phe172=) rs149161075 0.00154
NM_000362.5(TIMP3):c.*3084T>C rs187470458 0.00153
NM_003490.4(SYN3):c.711+63384G>T rs561308691 0.00126
NM_000362.5(TIMP3):c.*2122C>G rs113759053 0.00113
NM_000362.5(TIMP3):c.*3157T>C rs184758229 0.00096
NM_000362.5(TIMP3):c.*2033G>T rs140989943 0.00087
NM_000362.5(TIMP3):c.*2188C>T rs148261331 0.00073
NM_000362.5(TIMP3):c.*3028G>A rs117480762 0.00043
NM_000362.5(TIMP3):c.*2313C>A rs575977740 0.00028
NM_000362.5(TIMP3):c.289G>A (p.Val97Ile) rs201819465 0.00021
NM_000362.5(TIMP3):c.*3482C>T rs886057453 0.00019
NM_000362.5(TIMP3):c.*615C>T rs561679756 0.00014
NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln) rs142288050 0.00011
NM_003490.4(SYN3):c.711+63446C>T rs563393354 0.00006
NM_000362.5(TIMP3):c.*1495G>A rs536147838 0.00004
NM_000362.5(TIMP3):c.*1717A>G rs146493766 0.00003
NM_000362.5(TIMP3):c.*1242G>A rs540037700 0.00001
NM_000362.5(TIMP3):c.439-12A>G rs569856603 0.00001
NM_000362.5(TIMP3):c.*1812del rs397690270
NM_000362.5(TIMP3):c.*2017_*2019dup rs55686145
NM_000362.5(TIMP3):c.*2651T>C rs9621578
NM_003490.4(SYN3):c.711+63811A>T rs2234920

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