ClinVar Miner

List of variants studied for Seckel syndrome 1 by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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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_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_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_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

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