ClinVar Miner

List of variants studied for Seckel syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (17):
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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_018451.5(CENPJ):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_020921.4(NIN):c.1728G>A (p.Pro576=) rs61755036 0.01477
NM_020921.4(NIN):c.4866A>C (p.Glu1622Asp) rs77959782 0.01304
NM_001080449.3(DNA2):c.888G>A (p.Pro296=) rs16925390 0.01237
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser) rs141731085 0.00726
NM_001080449.3(DNA2):c.295T>C (p.Leu99=) rs140077857 0.00675
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) rs34372414 0.00661
NM_005879.3(TRAIP):c.303G>A (p.Gln101=) rs145932323 0.00538
NM_005879.3(TRAIP):c.99-9T>G rs181861135 0.00286
NM_001184.4(ATR):c.7504-16A>G rs111927479 0.00279
NM_014264.5(PLK4):c.2109C>A (p.Ile703=) rs74770705 0.00271
NM_018451.5(CENPJ):c.68A>G (p.Asn23Ser) rs116981543 0.00264
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_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
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_018451.5(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504 0.00029
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_001184.4(ATR):c.7902C>T (p.Cys2634=) rs553715098 0.00008
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_001184.4(ATR):c.7192+19A>G rs376334522 0.00005
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_020921.4(NIN):c.5138T>C (p.Leu1713Pro) rs558920997 0.00004
NM_001184.4(ATR):c.4846T>G (p.Ser1616Ala) rs201492267 0.00003
NM_018451.5(CENPJ):c.40C>T (p.Gln14Ter) rs201822162 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_001194998.2(CEP152):c.794A>C (p.Gln265Pro) rs267606717 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_014264.5(PLK4):c.609A>G (p.Thr203=) rs564323488 0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 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_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001080449.3(DNA2):c.720-4del rs34191745
NM_001184.4(ATR):c.3339_3341del (p.Ile1114del) rs779715723
NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe) rs797045455
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_002894.3(RBBP8):c.1939+20del rs757282598
NM_018451.5(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808

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