ClinVar Miner

List of variants studied for Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	rs771336246	0.00011
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala)	rs986437232
NM_022787.4(NMNAT1):c.299+526_*968dup
NM_022787.4(NMNAT1):c.439+5G>T	rs1641939445

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