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

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)	rs201342438	0.00263
NM_018451.5(CENPJ):c.3920C>T (p.Thr1307Ile)	rs144251950	0.00076
NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)	rs148713374	0.00072
NM_018451.5(CENPJ):c.2432T>A (p.Val811Asp)	rs151299406	0.00050
NM_018451.5(CENPJ):c.600G>T (p.Gln200His)	rs200061825	0.00043
NM_001184.4(ATR):c.4615G>A (p.Gly1539Ser)	rs138350940	0.00042
NM_001184.4(ATR):c.4405A>G (p.Thr1469Ala)	rs78895258	0.00036
NM_018451.5(CENPJ):c.1513G>A (p.Glu505Lys)	rs145679691	0.00036
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala)	rs41306027	0.00032
NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser)	rs200366079	0.00024
NM_018451.5(CENPJ):c.3080A>G (p.Gln1027Arg)	rs141237492	0.00023
NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	rs369234115	0.00021
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile)	rs377689383	0.00013
NM_018451.5(CENPJ):c.659C>T (p.Ser220Leu)	rs201219786	0.00008
NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	rs373804633	0.00007
NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val)	rs146955708	0.00006
NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr)	rs200055660	0.00006
NM_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys)	rs751031882	0.00005
NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	rs146649234	0.00004
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala)	rs201492267	0.00003
NM_001184.4(ATR):c.5303A>G (p.Asp1768Gly)	rs763130593	0.00001
NM_001184.4(ATR):c.7349+2T>C	rs200556378	0.00001
NM_014264.5(PLK4):c.160G>A (p.Val54Ile)	rs771069245	0.00001
NM_014264.5(PLK4):c.1935+4A>T	rs758425287	0.00001
NM_014264.5(PLK4):c.2368G>A (p.Glu790Lys)	rs773200383	0.00001
NM_018451.5(CENPJ):c.2429A>T (p.Asp810Val)	rs1021045841	0.00001
NM_018451.5(CENPJ):c.444+3A>G	rs587783411	0.00001
NM_001184.4(ATR):c.3339_3341del (p.Ile1114del)	rs779715723
NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe)	rs797045455
NM_002894.3(RBBP8):c.1939+20del	rs757282598

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