List of variants in gene HELLS reported as pathogenic for Immunodeficiency-centromeric instability-facial anomalies syndrome 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_018063.5(HELLS):c.370+2T>A	rs140316223	0.00001
NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg)	rs879253733
NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs)	rs879253734
NM_018063.5(HELLS):c.2394GTT[2] (p.Leu801del)	rs879253737
NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter)	rs879253736
NM_018063.5(HELLS):c.610A>T (p.Lys204Ter)	rs879253735

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