ClinVar Miner

List of variants studied for Seckel syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (17):
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ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly) rs149008479 0.00058
NM_001184.4(ATR):c.4641+15C>T rs200619976 0.00050
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) rs148064542 0.00041
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957 0.00021
NM_018451.5(CENPJ):c.1263G>C (p.Gln421His) rs201088712 0.00020
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile) rs377689383 0.00013
NM_001184.4(ATR):c.7041+4G>C rs113544835 0.00009
NM_001184.4(ATR):c.7725G>A (p.Ala2575=) rs587783340 0.00003
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu) rs587783338 0.00002
NM_001353108.3(CEP63):c.1068-1G>A rs752207334 0.00002
NM_001184.4(ATR):c.1350-3T>C rs587783323 0.00001
NM_001184.4(ATR):c.4306A>G (p.Asn1436Asp) rs587783328 0.00001
NM_001184.4(ATR):c.5732A>G (p.Asn1911Ser) rs587783334 0.00001
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter) rs797045450 0.00001
NM_020921.4(NIN):c.2482del (p.Arg828fs) rs747680111 0.00001
NM_001184.4(ATR):c.4641+1G>T rs797045403
NM_001184.4(ATR):c.5196+1G>A rs1553760567
NM_001184.4(ATR):c.5739-14G>T rs587783335
NM_002894.3(RBBP8):c.604+1G>T rs587780432
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter) rs797045447
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs) rs777893196
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs) rs797045448
NM_018451.5(CENPJ):c.1882del (p.Ala628fs) rs797045449
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs) rs797045452
NM_018451.5(CENPJ):c.3495_3497dup (p.Lys1165dup) rs776528706
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs) rs797045454

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