ClinVar Miner

List of variants studied for Intellectual disability, autosomal recessive 46

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Total variants: 26
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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.927A>G (p.Pro309=) rs137903526 0.00156
NM_001543.5(NDST1):c.239G>A (p.Arg80His) rs145390254 0.00145
NM_001543.5(NDST1):c.334C>T (p.Arg112Cys) rs138962514 0.00036
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys) rs150009231 0.00011
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu) rs774976739 0.00006
NM_001543.5(NDST1):c.389G>A (p.Arg130His) rs148227466 0.00005
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys) rs375092472 0.00004
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser) rs606231459 0.00001
NM_001543.5(NDST1):c.388C>T (p.Arg130Cys) rs746465319 0.00001
NM_001543.5(NDST1):c.883G>A (p.Val295Met) rs747017483 0.00001
NM_001543.5(NDST1):c.1846+23G>C rs2304063
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu) rs606231458
NM_001543.5(NDST1):c.1926G>T (p.Glu642Asp) rs606231457
NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)
NM_001543.5(NDST1):c.2126G>A (p.Arg709Gln) rs606231456
NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser) rs760333260
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala) rs1755738807
NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter)
NM_001543.5(NDST1):c.340G>T (p.Glu114Ter) rs1085307082
NM_001543.5(NDST1):c.39C>G (p.His13Gln) rs777877507
NM_001543.5(NDST1):c.750A>G (p.Pro250=) rs2273234
NM_001543.5(NDST1):c.985C>T (p.Arg329Cys)

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