ClinVar Miner

List of variants studied for microcephaly, epilepsy, and diabetes syndrome 2

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_030799.9(YIPF5):c.290G>T (p.Gly97Val) rs778505668
NM_030799.9(YIPF5):c.293T>G (p.Ile98Ser) rs2126759135
NM_030799.9(YIPF5):c.317_319del (p.Lys106del) rs1752133411
NM_030799.9(YIPF5):c.524T>A (p.Val175Asp)
NM_030799.9(YIPF5):c.542C>T (p.Ala181Val) rs1752071425
NM_030799.9(YIPF5):c.652T>A (p.Trp218Arg) rs2126755244

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