ClinVar Miner

List of variants in gene NDST1 reported as benign for Intellectual disability, autosomal recessive 46

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001543.5(NDST1):c.1662G>C (p.Thr554=) rs1290147 0.74209
NM_001543.5(NDST1):c.1097-28T>C rs2545341 0.67102
NM_001543.5(NDST1):c.681T>G (p.Val227=) rs2273235 0.41747
NM_001543.5(NDST1):c.1846+23G>C rs2304063
NM_001543.5(NDST1):c.750A>G (p.Pro250=) rs2273234

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