ClinVar Miner

List of variants studied for Klippel-Feil syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

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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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_032608.7(MYO18B):c.2960C>T (p.Thr987Met)	rs371198573	0.00004
NM_032608.7(MYO18B):c.1239_1240del (p.Lys414fs)
NM_032608.7(MYO18B):c.1402C>T (p.Gln468Ter)
NM_032608.7(MYO18B):c.39+5G>T

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