ClinVar Miner

List of variants reported as likely pathogenic for Klippel-Feil syndrome by Revvity Omics, Revvity

Included ClinVar conditions (10):

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Klippel-Feil syndrome
Klippel-Feil syndrome 1, autosomal dominant
Klippel-Feil syndrome 1, autosomal dominant; Autosomal dominant Parkinson disease 8
Klippel-Feil syndrome 1, autosomal dominant; Congenital anomaly of kidney and urinary tract
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17; Multiple synostoses syndrome 4
Klippel-Feil syndrome 2, autosomal recessive
Klippel-Feil syndrome 3, autosomal dominant
Klippel-Feil syndrome 3, autosomal dominant; Isolated microphthalmia 7; Microphthalmia, isolated, with coloboma 6

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_032608.7(MYO18B):c.169C>T (p.Gln57Ter)	rs1443918598	0.00001
NM_032608.7(MYO18B):c.7039C>T (p.Gln2347Ter)	rs572116317	0.00001
NM_032608.7(MYO18B):c.3174_3175dup (p.Ala1059fs)	rs2145951020
NM_032608.7(MYO18B):c.4796del (p.Asn1599fs)	rs1191610314
NM_032608.7(MYO18B):c.6660_6670del (p.Arg2220fs)	rs756408696
NM_032608.7(MYO18B):c.699dup (p.Gly234fs)

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