List of variants in gene TSPAN12 reported as uncertain significance for retinal disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_012338.4(TSPAN12):c.-246T>G	rs545477642	0.00056
NM_012338.4(TSPAN12):c.-214G>A	rs886061960	0.00007
NM_012338.4(TSPAN12):c.469-3C>T	rs371866127	0.00007
NM_012338.4(TSPAN12):c.*329G>A	rs1019599323	0.00006
NM_012338.4(TSPAN12):c.*103C>A	rs886061957	0.00004
NM_012338.4(TSPAN12):c.*104C>A	rs1331859165	0.00004
NM_012338.4(TSPAN12):c.*126T>C	rs1480438432	0.00004
NM_012338.4(TSPAN12):c.-232C>T	rs1429365486	0.00004
NM_012338.4(TSPAN12):c.825A>G (p.Ser275=)	rs137971071	0.00004
NM_012338.4(TSPAN12):c.-215G>T	rs1033504453	0.00003
NM_012338.4(TSPAN12):c.667C>A (p.Leu223Met)	rs754107565	0.00003
NM_012338.4(TSPAN12):c.147G>A (p.Thr49=)	rs746696379	0.00002
NM_012338.4(TSPAN12):c.-102G>A	rs886061959	0.00001
NM_012338.4(TSPAN12):c.-151A>C	rs1278836842	0.00001
NM_012338.4(TSPAN12):c.304G>T (p.Val102Phe)	rs777946907	0.00001
NM_012338.4(TSPAN12):c.457T>C (p.Phe153Leu)	rs886061958	0.00001
NM_012338.4(TSPAN12):c.*1240A>G	rs1793428871
NM_012338.4(TSPAN12):c.*553C>G	rs886061956
NM_012338.4(TSPAN12):c.*887C>G	rs763409914
NM_012338.4(TSPAN12):c.-169T>A	rs935463879
NM_012338.4(TSPAN12):c.-245dup	rs886061961
NM_012338.4(TSPAN12):c.-251del	rs561967326
NM_012338.4(TSPAN12):c.-251dup	rs561967326
NM_012338.4(TSPAN12):c.-314G>C	rs886061963
NM_012338.4(TSPAN12):c.-314G>T	rs886061963
NM_012338.4(TSPAN12):c.214T>C (p.Cys72Arg)	rs2116466534
NM_012338.4(TSPAN12):c.277C>T (p.Leu93Phe)
NM_012338.4(TSPAN12):c.283T>C (p.Trp95Arg)
NM_012338.4(TSPAN12):c.313T>C (p.Cys105Arg)
NM_012338.4(TSPAN12):c.32G>A (p.Arg11His)
NM_012338.4(TSPAN12):c.476G>T (p.Cys159Phe)	rs2116348690

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