ClinVar Miner

List of variants reported as uncertain significance for Seckel syndrome by Baylor Genetics

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001353108.3(CEP63):c.1657A>G (p.Lys553Glu) rs149856006 0.00042
NM_020921.4(NIN):c.6275C>T (p.Thr2092Ile) rs201013063 0.00017
NM_001813.3(CENPE):c.304C>T (p.His102Tyr) rs758681737 0.00010
NM_173685.4(NSMCE2):c.419-18C>T rs372016316 0.00010
NM_014264.5(PLK4):c.926A>G (p.Lys309Arg) rs543250835 0.00009
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser) rs387907308 0.00006
NM_018451.5(CENPJ):c.1222G>A (p.Glu408Lys) rs192296063 0.00005
NM_001353108.3(CEP63):c.935G>A (p.Arg312Gln) rs371924128 0.00004
NM_001813.3(CENPE):c.7187G>A (p.Ser2396Asn) rs369337735 0.00001
NM_005879.3(TRAIP):c.182A>G (p.Lys61Arg) rs751919007 0.00001
NM_001080449.3(DNA2):c.2156G>T (p.Arg719Ile) rs2051805505
NM_001080449.3(DNA2):c.707T>C (p.Met236Thr) rs759464271
NM_001184.4(ATR):c.214A>G (p.Ile72Val) rs1394561249
NM_001194998.2(CEP152):c.2563-11A>G
NM_001353108.3(CEP63):c.1973C>A (p.Pro658His) rs781235688
NM_001813.3(CENPE):c.1722+5G>A rs1754632871
NM_001813.3(CENPE):c.5035G>A (p.Glu1679Lys) rs114399328
NM_014264.5(PLK4):c.176A>G (p.Asn59Ser) rs1734999708
NM_020921.4(NIN):c.3026G>A (p.Ser1009Asn) rs866350711
NM_020921.4(NIN):c.5912C>A (p.Pro1971Gln) rs200441923

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