ClinVar Miner

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

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Total variants: 15
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NM_001184.4(ATR):c.1350-3T>C rs587783323
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665
NM_001184.4(ATR):c.2688G>A (p.Leu896=) rs117926957
NM_001184.4(ATR):c.3424A>G (p.Ser1142Gly) rs149008479
NM_001184.4(ATR):c.3799G>A (p.Val1267Ile) rs377689383
NM_001184.4(ATR):c.4306A>G (p.Asn1436Asp) rs587783328
NM_001184.4(ATR):c.4351C>T (p.Arg1451Trp) rs148064542
NM_001184.4(ATR):c.4641+15C>T rs200619976
NM_001184.4(ATR):c.4641+1G>T rs797045403
NM_001184.4(ATR):c.5196+1G>A rs1553760567
NM_001184.4(ATR):c.5732A>G (p.Asn1911Ser) rs587783334
NM_001184.4(ATR):c.5739-14G>T rs587783335
NM_001184.4(ATR):c.6961T>C (p.Phe2321Leu) rs587783338
NM_001184.4(ATR):c.7041+4G>C rs113544835
NM_001184.4(ATR):c.7725G>A (p.Ala2575=) rs587783340

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