ClinVar Miner

List of variants reported as uncertain significance for Senior-Loken syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) rs375907280
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.971T>C (p.Met324Thr) rs114250691
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319
NM_015102.5(NPHP4):c.2051A>G (p.Gln684Arg) rs200667197
NM_015102.5(NPHP4):c.2306A>T (p.His769Leu) rs200821373
NM_015102.5(NPHP4):c.254C>T (p.Pro85Leu) rs200272048
NM_015102.5(NPHP4):c.257C>T (p.Pro86Leu) rs201998215
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152
NM_015102.5(NPHP4):c.3181G>A (p.Val1061Ile) rs143020939
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr) rs41280798
NM_015102.5(NPHP4):c.4034G>A (p.Gly1345Asp) rs200407553
NM_015102.5(NPHP4):c.4145G>A (p.Gly1382Glu) rs773368924
NM_015102.5(NPHP4):c.946C>T (p.Arg316Cys) rs761345213
NM_025114.3(CEP290):c.1670G>A (p.Arg557His) rs184018899
NM_025114.3(CEP290):c.2551G>A (p.Val851Ile) rs764963626
NM_025114.3(CEP290):c.3660G>T (p.Lys1220Asn) rs201982308
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4938A>G (p.Lys1646=) rs371582975
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6392A>G (p.Glu2131Gly) rs184323010
NM_025114.3(CEP290):c.6629G>A (p.Arg2210His) rs371833544
NM_025114.3(CEP290):c.963T>A (p.Asp321Glu) rs774072453

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