ClinVar Miner

List of variants in gene MCCC1 reported as uncertain significance by Natera, Inc.

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Gene type:
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Total variants: 38
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HGVS dbSNP
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu)
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
NM_020166.5(MCCC1):c.492-4A>G
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.918A>C (p.Ala306=)
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139

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