ClinVar Miner

List of variants studied for Mucolipidosis type IV by Genome-Nilou Lab

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.1360-98A>G rs4520943 0.29497
NM_020533.3(MCOLN1):c.984C>T (p.Asn328=) rs612862 0.28776
NM_020533.3(MCOLN1):c.877+26A>G rs2305889 0.27574
NM_020533.3(MCOLN1):c.1360-51C>T rs11880842 0.26598
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_020533.3(MCOLN1):c.1575+69G>A rs141657649 0.03298
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348 0.00315
NM_020533.3(MCOLN1):c.305G>A (p.Arg102Gln) rs139377969 0.00042
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_020533.3(MCOLN1):c.1428G>A (p.Thr476=) rs774352633 0.00003
NM_020533.3(MCOLN1):c.41G>A (p.Arg14Gln) rs200048852 0.00003
NM_020533.3(MCOLN1):c.1461C>T (p.Ser487=) rs766701393 0.00001
NM_020533.3(MCOLN1):c.502C>T (p.Arg168Trp) rs757301173 0.00001
NM_020533.3(MCOLN1):c.1006C>T (p.Arg336Trp) rs886054695
NM_020533.3(MCOLN1):c.1672G>C (p.Gly558Arg) rs1417378837
NM_020533.3(MCOLN1):c.1706+40G>A rs686796
NM_020533.3(MCOLN1):c.405+61T>C rs1374334837
NM_020533.3(MCOLN1):c.405+64G>T rs2022573795
NM_020533.3(MCOLN1):c.406-38G>A rs45513896
NM_020533.3(MCOLN1):c.62G>A (p.Gly21Glu) rs2146021189

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