ClinVar Miner

List of variants reported as likely benign for Microcephaly, epilepsy, and diabetes syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_016097.5(IER3IP1):c.238T>C (p.Leu80=) rs370448745 0.00006
NM_016097.5(IER3IP1):c.91+8G>C rs1351463291 0.00004
NM_016097.5(IER3IP1):c.199T>C (p.Leu67=) rs752017219 0.00003
NM_016097.5(IER3IP1):c.138G>A (p.Pro46=) rs371854032 0.00002
NM_016097.5(IER3IP1):c.12C>A (p.Thr4=) rs1366709581 0.00001
NM_016097.5(IER3IP1):c.141A>T (p.Gly47=) rs750922610 0.00001
NM_016097.5(IER3IP1):c.165T>C (p.Leu55=) rs1235485066 0.00001
NM_016097.5(IER3IP1):c.193+18T>C rs1343523103 0.00001
NM_016097.5(IER3IP1):c.33A>C (p.Ala11=) rs758209602 0.00001
NM_016097.5(IER3IP1):c.42C>G (p.Leu14=) rs1239345376 0.00001
NM_016097.5(IER3IP1):c.92-10C>T rs772039958 0.00001
NM_016097.5(IER3IP1):c.108C>T (p.Asp36=) rs2144423267
NM_016097.5(IER3IP1):c.111G>A (p.Gln37=) rs1215910918
NM_016097.5(IER3IP1):c.12C>T (p.Thr4=) rs1366709581
NM_016097.5(IER3IP1):c.13C>T (p.Leu5=)
NM_016097.5(IER3IP1):c.150A>G (p.Ser50=) rs1599992528
NM_016097.5(IER3IP1):c.156A>G (p.Leu52=) rs1476264615
NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln) rs149009126
NM_016097.5(IER3IP1):c.183C>T (p.Thr61=) rs374653243
NM_016097.5(IER3IP1):c.186G>T (p.Val62=)
NM_016097.5(IER3IP1):c.18C>T (p.Tyr6=)
NM_016097.5(IER3IP1):c.193+17A>G
NM_016097.5(IER3IP1):c.194-12T>C
NM_016097.5(IER3IP1):c.194-14_194-11del
NM_016097.5(IER3IP1):c.231A>G (p.Leu77=) rs1434519589
NM_016097.5(IER3IP1):c.234T>C (p.Leu78=)
NM_016097.5(IER3IP1):c.243T>C (p.Phe81=)
NM_016097.5(IER3IP1):c.248G>A (p.Ter83=) rs2144421375
NM_016097.5(IER3IP1):c.27G>A (p.Leu9=)
NM_016097.5(IER3IP1):c.36C>T (p.Ala12=)
NM_016097.5(IER3IP1):c.54C>T (p.Ala18=)
NM_016097.5(IER3IP1):c.57C>T (p.Ile19=) rs964329991
NM_016097.5(IER3IP1):c.63G>T (p.Val21=) rs1600005709
NM_016097.5(IER3IP1):c.66G>A (p.Leu22=) rs1021991165
NM_016097.5(IER3IP1):c.78A>T (p.Arg26=) rs1568075687
NM_016097.5(IER3IP1):c.84C>G (p.Leu28=)
NM_016097.5(IER3IP1):c.87G>A (p.Lys29=)
NM_016097.5(IER3IP1):c.90C>T (p.Asn30=) rs2064032870
NM_016097.5(IER3IP1):c.91+10A>C
NM_016097.5(IER3IP1):c.91+10A>T
NM_016097.5(IER3IP1):c.91+13_91+18del
NM_016097.5(IER3IP1):c.91+15G>T
NM_016097.5(IER3IP1):c.91+9G>C
NM_016097.5(IER3IP1):c.92-10_92-6del rs1209524098
NM_016097.5(IER3IP1):c.92-17A>G rs1568070686
NM_016097.5(IER3IP1):c.92-5T>C rs1568070683

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