ClinVar Miner

List of variants reported as likely pathogenic for Klippel-Feil syndrome by Baylor Genetics

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001001557.4(GDF6):c.169G>C (p.Asp57His)	rs397514725	0.00006
NM_032608.7(MYO18B):c.2626C>T (p.Arg876Ter)	rs267606197
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter)	rs556752387

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