ClinVar Miner

List of variants studied for neurodevelopmental disorder with hypotonia, neuropathy, and deafness by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020971.3(SPTBN4):c.6502C>G (p.Leu2168Val) rs760932101 0.00010
NM_020971.3(SPTBN4):c.3319G>A (p.Ala1107Thr)
NM_020971.3(SPTBN4):c.4862T>A (p.Phe1621Tyr)
NM_020971.3(SPTBN4):c.5173C>T (p.Gln1725Ter)

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