ClinVar Miner

List of variants in gene MCCC2 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1574+37C>G rs138725621 0.01241
NM_022132.5(MCCC2):c.1216+163A>G rs6879121 0.01135
NM_022132.5(MCCC2):c.*245T>C rs11551918 0.01133
NM_022132.5(MCCC2):c.384-80T>C rs62361814 0.01111
NM_022132.5(MCCC2):c.999+105A>G rs114421004 0.01048
NM_022132.5(MCCC2):c.1000-299G>A rs16868960 0.00951
NM_022132.5(MCCC2):c.739-201C>T rs79414974 0.00934
NM_022132.5(MCCC2):c.511+204A>G rs142949291 0.00835
NM_022132.5(MCCC2):c.384-43A>G rs113707117 0.00756
NM_022132.5(MCCC2):c.1072+57A>G rs116384281 0.00662
NM_022132.5(MCCC2):c.1000-151T>C rs148769612 0.00645
NM_022132.5(MCCC2):c.130-79T>C rs148854949 0.00593
NM_022132.5(MCCC2):c.1150-105G>T rs73763910 0.00568
NC_000005.10:g.71587242G>A rs140854474 0.00503
NM_022132.5(MCCC2):c.196+100T>A rs1017105812 0.00485
NM_022132.5(MCCC2):c.1150-76T>G rs114346617 0.00421
NM_022132.5(MCCC2):c.-38G>A rs186132078 0.00403
NM_022132.5(MCCC2):c.1073-230A>G rs569365637 0.00364
NM_022132.5(MCCC2):c.129+146A>G rs183578809 0.00297
NM_022132.5(MCCC2):c.-20C>G rs369716018 0.00273
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00266
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062 0.00228
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_022132.5(MCCC2):c.1488+10G>A rs190514867 0.00007
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=) rs779855532 0.00006
NM_022132.5(MCCC2):c.1488+3C>T rs374049769 0.00004
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=) rs1266022580 0.00003
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133 0.00003
NM_022132.5(MCCC2):c.1373+18C>T rs200716557 0.00002
NM_022132.5(MCCC2):c.1374-19C>A rs761903116 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_022132.5(MCCC2):c.625-17G>A rs771274447 0.00001
NM_022132.5(MCCC2):c.1000-237T>G rs116390653
NM_022132.5(MCCC2):c.1149+137_1149+138insGT rs746221732
NM_022132.5(MCCC2):c.1149+139TG[23] rs61210707
NM_022132.5(MCCC2):c.1149+167_1149+180del rs1174093285
NM_022132.5(MCCC2):c.1149+173_1149+178del rs1247883051
NM_022132.5(MCCC2):c.1150-17_1150-16del rs904388490
NM_022132.5(MCCC2):c.1179A>G (p.Gln393=) rs1383864998
NM_022132.5(MCCC2):c.1215T>G (p.Thr405=) rs1057523489
NM_022132.5(MCCC2):c.130-72del rs371137817
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1574+6G>C rs1554138717
NM_022132.5(MCCC2):c.196+113del rs72536613
NM_022132.5(MCCC2):c.196+113dup rs72536613
NM_022132.5(MCCC2):c.279A>T (p.Pro93=) rs1554133471
NM_022132.5(MCCC2):c.54C>G (p.Ala18=) rs747327321

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