ClinVar Miner

List of variants reported as uncertain significance for Senior-Loken syndrome 4

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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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

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