ClinVar Miner

List of variants studied for Cryptorchidism; Triphalangeal thumb; Inguinal hernia; Feeding difficulties; Hemivertebrae; Constipation; Oligohydramnios; Hydroureter; Abnormal facial shape; Penile hypospadias; Strabismus; Intellectual disability; Generalized hypotonia; Mitral stenosis; Fetal pyelectasis; Patent ductus arteriosus after premature birth; Perimembranous ventricular septal defect; Neurodevelopmental delay; Bicuspid aortic valve by Wendy Chung Laboratory, Columbia University Medical Center

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_014462.3(LSM1):c.231+4A>C	rs775468919	0.00003

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