ClinVar Miner

List of variants reported as likely pathogenic for Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

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Total variants: 17
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HGVS dbSNP
NG_032580.1:g.(92613040_92613130)_(92613377_92613619)del
NM_004523.4(KIF11):c.1305+1G>A rs1589600695
NM_004523.4(KIF11):c.139C>T (p.Arg47Ter) rs1227480400
NM_004523.4(KIF11):c.1580A>T (p.Asn527Ile)
NM_004523.4(KIF11):c.1634T>C (p.Met545Thr) rs1564713037
NM_004523.4(KIF11):c.1A>G (p.Met1Val)
NM_004523.4(KIF11):c.2059del (p.His687fs) rs1554862197
NM_004523.4(KIF11):c.2268-1G>A
NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs)
NM_004523.4(KIF11):c.2458G>T (p.Glu820Ter)
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_004523.4(KIF11):c.2545G>T (p.Glu849Ter)
NM_004523.4(KIF11):c.2972dup (p.Ser992fs) rs1554863246
NM_004523.4(KIF11):c.381G>A (p.Trp127Ter) rs1589590737
NM_004523.4(KIF11):c.529del (p.Asp177fs)
NM_004523.4(KIF11):c.587_590del (p.Ile196fs)
NM_004523.4(KIF11):c.895A>G (p.Ile299Val)

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