ClinVar Miner

List of variants in gene MCCC1 reported as benign

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Gene type:
ClinVar version:
Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.1978-57G>T rs6786878 0.93354
NM_020166.5(MCCC1):c.1978-186G>A rs10804888 0.89482
NM_020166.5(MCCC1):c.1268-255A>G rs9861464 0.89480
NM_020166.5(MCCC1):c.1978-287T>A rs10937105 0.89193
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_020166.5(MCCC1):c.492-222A>G rs6785680 0.89162
NM_020166.5(MCCC1):c.762-187G>A rs7646991 0.89081
NM_020166.5(MCCC1):c.1083+185G>A rs13088830 0.61827
NM_020166.5(MCCC1):c.956-252C>T rs1502762 0.61797
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_020166.5(MCCC1):c.2050-193A>G rs12486983 0.56970
NM_020166.5(MCCC1):c.369+96C>T rs6806083 0.54587
NM_020166.5(MCCC1):c.1870-262C>T rs10937106 0.50107
NM_020166.5(MCCC1):c.1084-217G>A rs2292057 0.50090
NM_020166.5(MCCC1):c.1268-161C>T rs2270967 0.50080
NM_020166.5(MCCC1):c.1731+276G>T rs7640612 0.49990
NM_020166.5(MCCC1):c.1267+258G>A rs2292058 0.08289
NM_020166.5(MCCC1):c.1595-178G>A rs140278703 0.06872
NM_020166.5(MCCC1):c.1594+39T>C rs2270969 0.06776
NM_020166.5(MCCC1):c.1681+77C>T rs75187429 0.06739
NM_020166.5(MCCC1):c.370-255G>T rs78297829 0.06499
NM_020166.5(MCCC1):c.873+337G>A rs113566442 0.06361
NM_020166.5(MCCC1):c.874-239A>G rs62293212 0.06079
NM_020166.5(MCCC1):c.1869+255A>G rs73883998 0.03531
NC_000003.12:g.183099917C>A rs7615451 0.03453
NM_020166.5(MCCC1):c.762-182A>T rs74655374 0.03187
NM_020166.5(MCCC1):c.956-324G>T rs3772721 0.03014
NM_020166.5(MCCC1):c.1977+94T>G rs77932064 0.02845
NM_020166.5(MCCC1):c.492-126G>A rs6772568 0.02755
NM_020166.5(MCCC1):c.491+188A>T rs78684959 0.02600
NM_020166.5(MCCC1):c.1595-100T>C rs7629760 0.02592
NM_020166.5(MCCC1):c.1595-102T>C rs7629763 0.02590
NM_020166.5(MCCC1):c.1978-194C>A rs73883994 0.02390
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839 0.00480
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712 0.00445
NM_020166.5(MCCC1):c.273+32C>T rs114484300 0.00264
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707 0.00048
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318 0.00008
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NC_000003.12:g.183099673dup rs141274667
NM_020166.5(MCCC1):c.1083+15dup rs377092260
NM_020166.5(MCCC1):c.1083+304dup rs35283773
NM_020166.5(MCCC1):c.1268-19C>T
NM_020166.5(MCCC1):c.1378-17del
NM_020166.5(MCCC1):c.1682-17dup
NM_020166.5(MCCC1):c.1682-246_1682-242del rs72489915
NM_020166.5(MCCC1):c.1732-13del rs770181345
NM_020166.5(MCCC1):c.1732-208T>C rs2108441955
NM_020166.5(MCCC1):c.1732-4dup
NM_020166.5(MCCC1):c.1870-134T>C rs9834143
NM_020166.5(MCCC1):c.1978-86A>C rs2292056
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_020166.5(MCCC1):c.761+265del rs11313652
NM_020166.5(MCCC1):c.874-6del rs755494348
NM_020166.5(MCCC1):c.874-6dup rs755494348
NM_020166.5(MCCC1):c.89+42G>A rs57347018
NM_020166.5(MCCC1):c.956-10dup rs747546545

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