ClinVar Miner

List of variants reported as benign for Mucolipidosis type IV

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_006702.5(PNPLA6):c.-261T>C rs560849 0.29546
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.405+13G>A rs73488492 0.01978
NM_020533.3(MCOLN1):c.777+99G>A rs12462124 0.01482
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888 0.01477
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) rs28541364 0.01398
NM_020533.3(MCOLN1):c.680+14A>T rs151281315 0.00709
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys) rs61736595 0.00279
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=) rs147754092 0.00231
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val) rs141240937 0.00119
NM_020533.3(MCOLN1):c.1359+11C>A rs193053180 0.00106
NM_020533.3(MCOLN1):c.32-10A>G rs371191277 0.00093
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=) rs180687633 0.00013
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln) rs528887619 0.00003
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_020533.3(MCOLN1):c.1706+40G>A rs686796
NM_020533.3(MCOLN1):c.406-38G>A rs45513896
NM_020533.3(MCOLN1):c.571+13G>A
NM_020533.3(MCOLN1):c.771C>A (p.Ser257Arg) rs113261161
NM_020533.3(MCOLN1):c.777+12del rs563339019
NM_020533.3(MCOLN1):c.777+12dup rs563339019
NM_020533.3(MCOLN1):c.778-5dup

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