ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.*1A>T rs115605600 0.00230
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139 0.00064
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) rs148332041 0.00033
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122 0.00011
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser) rs201745589 0.00010
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365 0.00007
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His) rs146689034 0.00006
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00006
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr) rs202192191 0.00005
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr) rs762409158 0.00005
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met) rs150943644 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His) rs143892743 0.00004
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) rs182830931 0.00003
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) rs776138490 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621 0.00003
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr) rs796051987 0.00002
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) rs150835353 0.00002
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg) rs761480737 0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met) rs375326791 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) rs753650692 0.00002
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val) rs965802215 0.00001
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys) rs1333357031 0.00001
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala) rs946293038 0.00001
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys) rs369847846 0.00001
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001 0.00001
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387 0.00001
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) rs758827154 0.00001
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu) rs750133436 0.00001
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg) rs746430473 0.00001
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val) rs780072787 0.00001
NM_020166.5(MCCC1):c.492-4A>G rs908545297 0.00001
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val) rs1198116993 0.00001
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771 0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004 0.00001
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) rs1164035251 0.00001
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) rs754437245 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser) rs974953181 0.00001
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val) rs1232970567
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu) rs1560219876
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg) rs1713701795
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) rs563586657
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val) rs751755306
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) rs1577363370
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr) rs1333663197
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.328A>G (p.Met110Val) rs1717919066
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val) rs1367329678
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala) rs1716671130
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr) rs1406515651
NM_020166.5(MCCC1):c.730A>G (p.Met244Val) rs369227006
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly) rs1715498129
NM_020166.5(MCCC1):c.918A>C (p.Ala306=) rs1715030459

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