ClinVar Miner

List of variants in gene combination SYN3, TIMP3 reported as likely benign for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000362.5(TIMP3):c.*2820G>A rs184643956 0.00080
NC_000022.11:g.32800802C>T rs148722870 0.00040
NM_000362.5(TIMP3):c.321C>T (p.Arg107=) rs145553035 0.00007
NM_000362.5(TIMP3):c.615C>T (p.Ile205=) rs749317282 0.00002
NM_000362.4(TIMP3):c.-898T>C rs2234920
NM_000362.5(TIMP3):c.602dup (p.Asp202fs)

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