ClinVar Miner

List of variants in gene SPTBN4 reported as uncertain significance for neurodevelopmental disorder with hypotonia, neuropathy, and deafness

Included ClinVar conditions (1):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020971.3(SPTBN4):c.1798C>T (p.Arg600Cys) rs148286750 0.00022
NM_020971.3(SPTBN4):c.1423G>A (p.Glu475Lys) rs139202803 0.00014
NM_020971.3(SPTBN4):c.6113A>G (p.Asp2038Gly) rs1279770682 0.00014
NM_020971.3(SPTBN4):c.6502C>G (p.Leu2168Val) rs760932101 0.00010
NM_020971.3(SPTBN4):c.5929G>A (p.Val1977Met) rs756862656 0.00002
NM_020971.3(SPTBN4):c.5690G>T (p.Gly1897Val) rs749766994 0.00001
NM_020971.3(SPTBN4):c.758G>C (p.Gly253Ala) rs1568776196 0.00001
NM_020971.3(SPTBN4):c.1286T>A (p.Leu429Gln)
NM_020971.3(SPTBN4):c.1570G>T (p.Val524Leu)
NM_020971.3(SPTBN4):c.2426G>A (p.Arg809His)
NM_020971.3(SPTBN4):c.2999G>A (p.Arg1000His)
NM_020971.3(SPTBN4):c.3047C>A (p.Ala1016Asp)
NM_020971.3(SPTBN4):c.3205G>A (p.Glu1069Lys)
NM_020971.3(SPTBN4):c.3319G>A (p.Ala1107Thr)
NM_020971.3(SPTBN4):c.3652C>A (p.Gln1218Lys)
NM_020971.3(SPTBN4):c.4178C>T (p.Ala1393Val)
NM_020971.3(SPTBN4):c.455T>G (p.Leu152Arg)
NM_020971.3(SPTBN4):c.4862T>A (p.Phe1621Tyr)
NM_020971.3(SPTBN4):c.64G>A (p.Ala22Thr)
NM_020971.3(SPTBN4):c.6594C>G (p.Ile2198Met)

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