ClinVar Miner

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

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_016097.5(IER3IP1):c.223A>G (p.Ile75Val) rs536988795 0.00011
NM_016097.5(IER3IP1):c.13C>G (p.Leu5Val) rs749363298 0.00004
NM_016097.5(IER3IP1):c.194-3C>T rs1415184784 0.00004
NM_016097.5(IER3IP1):c.221C>G (p.Ala74Gly) rs374082811 0.00003
NM_016097.5(IER3IP1):c.191G>C (p.Arg64Thr) rs778702869 0.00002
NM_016097.5(IER3IP1):c.215C>T (p.Ser72Leu) rs200201845 0.00002
NM_016097.5(IER3IP1):c.30G>T (p.Gln10His) rs375955429 0.00002
NM_016097.5(IER3IP1):c.32C>T (p.Ala11Val) rs777482527 0.00002
NM_016097.5(IER3IP1):c.62T>G (p.Val21Gly) rs387907011 0.00002
NM_016097.5(IER3IP1):c.137C>T (p.Pro46Leu) rs779559244 0.00001
NM_016097.5(IER3IP1):c.217A>G (p.Ile73Val) rs923756205 0.00001
NM_016097.5(IER3IP1):c.230T>A (p.Leu77Ter) rs2063958344 0.00001
NM_016097.5(IER3IP1):c.2T>C (p.Met1Thr) rs983642731 0.00001
NM_016097.5(IER3IP1):c.71A>C (p.Glu24Ala) rs1011485628 0.00001
NC_000018.9:g.(?_42281312)_(45423127_?)dup
NC_000018.9:g.(?_44682528)_(44702668_?)dup
NM_016097.5(IER3IP1):c.106G>C (p.Asp36His) rs2063965398
NM_016097.5(IER3IP1):c.10A>G (p.Thr4Ala) rs2064033592
NM_016097.5(IER3IP1):c.110A>T (p.Gln37Leu) rs953406190
NM_016097.5(IER3IP1):c.113_122del (p.Gly38fs)
NM_016097.5(IER3IP1):c.116T>C (p.Ile39Thr) rs2144423249
NM_016097.5(IER3IP1):c.118G>A (p.Gly40Ser) rs753437838
NM_016097.5(IER3IP1):c.118G>T (p.Gly40Cys) rs753437838
NM_016097.5(IER3IP1):c.11C>G (p.Thr4Ser) rs2144443779
NM_016097.5(IER3IP1):c.136C>T (p.Pro46Ser)
NM_016097.5(IER3IP1):c.149C>T (p.Ser50Leu) rs1423240820
NM_016097.5(IER3IP1):c.162C>A (p.Asn54Lys)
NM_016097.5(IER3IP1):c.163C>T (p.Leu55Phe) rs763173824
NM_016097.5(IER3IP1):c.170G>T (p.Arg57Leu) rs149009126
NM_016097.5(IER3IP1):c.175G>A (p.Val59Ile) rs201912542
NM_016097.5(IER3IP1):c.175G>C (p.Val59Leu) rs201912542
NM_016097.5(IER3IP1):c.188T>C (p.Met63Thr) rs2063964837
NM_016097.5(IER3IP1):c.200T>C (p.Leu67Ser)
NM_016097.5(IER3IP1):c.218T>C (p.Ile73Thr)
NM_016097.5(IER3IP1):c.226G>T (p.Val76Leu)
NM_016097.5(IER3IP1):c.239T>G (p.Leu80Ter) rs1599991332
NM_016097.5(IER3IP1):c.26T>C (p.Leu9Pro)
NM_016097.5(IER3IP1):c.2T>A (p.Met1Lys) rs983642731
NM_016097.5(IER3IP1):c.34G>C (p.Ala12Pro)
NM_016097.5(IER3IP1):c.4G>T (p.Ala2Ser) rs566078666
NM_016097.5(IER3IP1):c.66del (p.His23fs) rs1235349731
NM_016097.5(IER3IP1):c.69C>G (p.His23Gln) rs1409344170
NM_016097.5(IER3IP1):c.80del (p.Phe27fs) rs863223399
NM_016097.5(IER3IP1):c.92-20C>G

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