List of variants reported as uncertain significance for pigmented paravenous retinochoroidal atrophy by Illumina Laboratory Services, Illumina

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Total variants: 34

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.*412T>C	rs564341986	0.00057
NM_201253.3(CRB1):c.*116A>G	rs575882211	0.00016
NM_201253.3(CRB1):c.*261A>G	rs747349828	0.00009
NM_201253.3(CRB1):c.*324C>A	rs190166697	0.00009
NM_201253.2(CRB1):c.-195G>A	rs886045782	0.00007
NM_201253.3(CRB1):c.1172-15T>A	rs375141011	0.00006
NM_201253.3(CRB1):c.*289A>G	rs780654592	0.00004
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)	rs62636286	0.00004
NM_201253.3(CRB1):c.2419C>T (p.Leu807=)	rs371089348	0.00004
NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala)	rs886045787	0.00004
NM_201253.3(CRB1):c.*158G>T	rs886045789	0.00001
NM_201253.3(CRB1):c.*171C>G	rs1036503792	0.00001
NM_201253.3(CRB1):c.-55C>T	rs965921500	0.00001
NM_201253.3(CRB1):c.1493G>C (p.Ser498Thr)	rs992770731	0.00001
NM_201253.3(CRB1):c.1496G>T (p.Gly499Val)	rs1283508348	0.00001
NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)	rs375590765	0.00001
NM_201253.3(CRB1):c.2330C>T (p.Pro777Leu)	rs886045784	0.00001
NM_201253.3(CRB1):c.2636T>C (p.Val879Ala)	rs772386967	0.00001
NM_201253.3(CRB1):c.2983G>A (p.Glu995Lys)	rs62635655	0.00001
NM_201253.3(CRB1):c.3103C>T (p.His1035Tyr)	rs752329622	0.00001
NM_201253.3(CRB1):c.411T>C (p.Pro137=)	rs1009098995	0.00001
NM_201253.3(CRB1):c.639C>G (p.Pro213=)	rs1208641510	0.00001
NM_201253.2(CRB1):c.-204C>T	rs544047392
NM_201253.3(CRB1):c.331_337dup	rs886045790
NM_201253.3(CRB1):c.*81C>A	rs192819758
NM_201253.3(CRB1):c.*99G>T	rs1429931885
NM_201253.3(CRB1):c.-56C>G	rs1654712316
NM_201253.3(CRB1):c.1878T>C (p.Ala626=)	rs1413323140
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)	rs1204363918
NM_201253.3(CRB1):c.2863A>C (p.Asn955His)	rs886045785
NM_201253.3(CRB1):c.2917C>G (p.Leu973Val)	rs886045786
NM_201253.3(CRB1):c.371T>A (p.Ile124Asn)	rs886045783
NM_201253.3(CRB1):c.4205T>C (p.Met1402Thr)	rs767920858
NM_201253.3(CRB1):c.98G>A (p.Arg33Lys)	rs1658648856

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