ClinVar Miner

List of variants in gene MCOLN1 reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_020533.3(MCOLN1):c.777+99G>A rs12462124 0.01482
NM_020533.3(MCOLN1):c.1360-16G>A rs367955829 0.00019
NM_020533.3(MCOLN1):c.406-2A>G rs104886461 0.00009
NM_020533.3(MCOLN1):c.1120G>A (p.Gly374Ser) rs749914804 0.00006
NM_020533.3(MCOLN1):c.1134+5G>A rs781005728 0.00004
NM_020533.3(MCOLN1):c.304C>T (p.Arg102Ter) rs121908373 0.00003
NM_020533.3(MCOLN1):c.920del (p.Leu307fs) rs755042147 0.00003
NM_020533.3(MCOLN1):c.497G>T (p.Cys166Phe) rs797044826 0.00002
NM_020533.3(MCOLN1):c.1207C>T (p.Arg403Cys) rs121908374 0.00001
NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser) rs797044818 0.00001
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) rs767122713 0.00001
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371 0.00001
NC_000019.9:g.(7591813_7592405)_(7592847_7593043)del
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del) rs797044817
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) rs754097561
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs) rs797044823
NM_020533.3(MCOLN1):c.1615del (p.Ala539fs) rs1555742780
NM_020533.3(MCOLN1):c.1701C>A (p.Cys567Ter) rs765975281
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=) rs751298168
NM_020533.3(MCOLN1):c.514C>T (p.Arg172Ter) rs797044824
NM_020533.3(MCOLN1):c.571+17A>T rs2146022957

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