ClinVar Miner

List of variants reported as benign for Seckel syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930
NM_001184.4(ATR):c.1815T>C (p.Asp605=) rs2227929
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904
NM_001194998.2(CEP152):c.-94A>G rs2304546
NM_001194998.2(CEP152):c.3466+8G>C rs2306187
NM_001194998.2(CEP152):c.833-4G>A rs58156069
NM_002894.3(RBBP8):c.-252C>T rs7227168
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769
NM_018451.4(CENPJ):c.2992-18_2992-16delGTT rs375905817
NM_018451.5(CENPJ):c.*302del rs138938177
NM_018451.5(CENPJ):c.*305_*307AAG[1] rs796638364
NM_018451.5(CENPJ):c.*398A>G rs11620289
NM_018451.5(CENPJ):c.*404C>T rs77868928
NM_018451.5(CENPJ):c.*683dup rs397718122
NM_018451.5(CENPJ):c.3042A>G (p.Glu1014=) rs3742165
NM_018451.5(CENPJ):c.3216+7A>G rs9318917
NM_018451.5(CENPJ):c.3704-14_3704-12del rs34991318
NM_018451.5(CENPJ):c.61A>G (p.Met21Val) rs35498994

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