ClinVar Miner

List of variants reported as not provided for Klippel-Feil syndrome

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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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_032608.7(MYO18B):c.5047G>A (p.Val1683Ile)	rs200295571	0.00027
NM_032608.7(MYO18B):c.5915T>C (p.Ile1972Thr)	rs2146631078

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