ClinVar Miner

List of variants reported for Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome by Undiagnosed Diseases Network, NIH

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.1787C>T (p.Thr596Met)	rs756953635	0.00001
NM_007055.4(POLR3A):c.1400C>T (p.Ser467Leu)	rs1589316371
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_007055.4(POLR3A):c.3429+51A>G

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