ClinVar Miner

List of variants reported as uncertain significance for Methylmalonic acidemia with homocystinuria, type cblX by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005334.3(HCFC1):c.905-3C>T rs200367055 0.00018
NM_005334.3(HCFC1):c.4417A>G (p.Thr1473Ala) rs201714172 0.00017
NM_005334.3(HCFC1):c.3689C>T (p.Ala1230Val) rs782575778 0.00008
NM_005334.3(HCFC1):c.4687G>A (p.Gly1563Ser) rs782310209 0.00005
NM_005334.3(HCFC1):c.4574C>T (p.Thr1525Ile) rs782370174 0.00004
NM_005334.3(HCFC1):c.3604G>A (p.Gly1202Arg) rs1439756712 0.00003
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His) rs782013532 0.00003
NM_005334.3(HCFC1):c.3754C>T (p.Pro1252Ser) rs782399563 0.00003
NM_005334.3(HCFC1):c.4532G>A (p.Arg1511His) rs978039312 0.00003
NM_005334.3(HCFC1):c.4948G>A (p.Gly1650Ser) rs909217502 0.00003
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) rs782010359 0.00002
NM_005334.3(HCFC1):c.2287C>T (p.Pro763Ser) rs782341890 0.00002
NM_005334.3(HCFC1):c.3385G>A (p.Ala1129Thr) rs782235304 0.00002
NM_005334.3(HCFC1):c.3398G>A (p.Arg1133Gln) rs903638473 0.00002
NM_005334.3(HCFC1):c.3443G>A (p.Arg1148Gln) rs372862114 0.00002
NM_005334.3(HCFC1):c.3611G>A (p.Arg1204His) rs782325660 0.00002
NM_005334.3(HCFC1):c.4063C>T (p.Arg1355Cys) rs782737479 0.00002
NM_005334.3(HCFC1):c.4520C>T (p.Ser1507Leu) rs782560491 0.00002
NM_005334.3(HCFC1):c.4910C>T (p.Ala1637Val) rs1002620023 0.00002
NM_005334.3(HCFC1):c.1222A>G (p.Thr408Ala) rs781937365 0.00001
NM_005334.3(HCFC1):c.1309G>A (p.Val437Met) rs2065413556 0.00001
NM_005334.3(HCFC1):c.2353+6G>A rs782738280 0.00001
NM_005334.3(HCFC1):c.3337G>A (p.Glu1113Lys) rs782066012 0.00001
NM_005334.3(HCFC1):c.3409C>T (p.Arg1137Trp) rs1043389387 0.00001
NM_005334.3(HCFC1):c.3791G>C (p.Gly1264Ala) rs1557113936 0.00001
NM_005334.3(HCFC1):c.4109C>T (p.Ser1370Leu) rs1557113656 0.00001
NM_005334.3(HCFC1):c.4242G>C (p.Gln1414His) rs1004412459 0.00001
NM_005334.3(HCFC1):c.4334A>G (p.Asp1445Gly) rs782122807 0.00001
NM_005334.3(HCFC1):c.4423A>G (p.Thr1475Ala) rs2065338418 0.00001
NM_005334.3(HCFC1):c.4481C>T (p.Pro1494Leu) rs1446971324 0.00001
NM_005334.3(HCFC1):c.4733C>T (p.Thr1578Ile) rs1252960661 0.00001
NM_005334.3(HCFC1):c.4789G>A (p.Ala1597Thr) rs1557112927 0.00001
NM_005334.3(HCFC1):c.4790C>T (p.Ala1597Val) rs372010656 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_005334.3(HCFC1):c.5300T>G (p.Val1767Gly) rs1360396448 0.00001
NM_005334.3(HCFC1):c.5420A>G (p.Lys1807Arg) rs1557112412 0.00001
NM_005334.3(HCFC1):c.5533G>A (p.Val1845Ile) rs1400195721 0.00001
NC_000023.10:g.(?_153195397)_(153583460_?)dup
NM_005334.3(HCFC1):c.1159G>A (p.Val387Met) rs782132752
NM_005334.3(HCFC1):c.1228A>G (p.Thr410Ala) rs782419845
NM_005334.3(HCFC1):c.1355C>T (p.Ala452Val) rs868948937
NM_005334.3(HCFC1):c.1427C>T (p.Thr476Ile) rs782364666
NM_005334.3(HCFC1):c.1447G>A (p.Val483Ile)
NM_005334.3(HCFC1):c.1763C>A (p.Thr588Asn) rs2521637150
NM_005334.3(HCFC1):c.2028+6T>C rs2065394990
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) rs397515486
NM_005334.3(HCFC1):c.2360C>A (p.Thr787Asn) rs868910094
NM_005334.3(HCFC1):c.2516C>T (p.Pro839Leu) rs2521599484
NM_005334.3(HCFC1):c.2542A>G (p.Thr848Ala) rs1131691855
NM_005334.3(HCFC1):c.2668G>A (p.Val890Ile) rs949004802
NM_005334.3(HCFC1):c.2903G>A (p.Gly968Glu)
NM_005334.3(HCFC1):c.2962G>C (p.Glu988Gln)
NM_005334.3(HCFC1):c.3175C>T (p.Leu1059Phe)
NM_005334.3(HCFC1):c.3233C>T (p.Pro1078Leu) rs2521562987
NM_005334.3(HCFC1):c.3314C>T (p.Ser1105Leu) rs2065360852
NM_005334.3(HCFC1):c.3317A>C (p.Asn1106Thr) rs2065360777
NM_005334.3(HCFC1):c.3571C>T (p.Pro1191Ser)
NM_005334.3(HCFC1):c.3584C>T (p.Pro1195Leu) rs868934897
NM_005334.3(HCFC1):c.3602C>G (p.Pro1201Arg) rs2521551017
NM_005334.3(HCFC1):c.3733T>C (p.Ser1245Pro)
NM_005334.3(HCFC1):c.3767C>T (p.Pro1256Leu) rs781823599
NM_005334.3(HCFC1):c.3779G>T (p.Ser1260Ile) rs2065352881
NM_005334.3(HCFC1):c.3807_3812del (p.1270VT[1]) rs2521544632
NM_005334.3(HCFC1):c.3811A>G (p.Thr1271Ala) rs2521544682
NM_005334.3(HCFC1):c.3839G>C (p.Cys1280Ser) rs2521544212
NM_005334.3(HCFC1):c.3880T>C (p.Cys1294Arg) rs2148571129
NM_005334.3(HCFC1):c.3995C>T (p.Thr1332Met) rs1281684187
NM_005334.3(HCFC1):c.4148C>T (p.Ser1383Phe) rs2521534140
NM_005334.3(HCFC1):c.4210G>C (p.Gly1404Arg) rs2148569217
NM_005334.3(HCFC1):c.4226C>G (p.Ala1409Gly)
NM_005334.3(HCFC1):c.4387A>G (p.Ser1463Gly)
NM_005334.3(HCFC1):c.4394A>G (p.Asn1465Ser)
NM_005334.3(HCFC1):c.4499C>T (p.Pro1500Leu) rs1277991321
NM_005334.3(HCFC1):c.4727C>A (p.Pro1576Gln) rs2148563453
NM_005334.3(HCFC1):c.4735C>G (p.Gln1579Glu) rs1603294733
NM_005334.3(HCFC1):c.4880C>T (p.Thr1627Met) rs2148563099
NM_005334.3(HCFC1):c.4983_4988del (p.Val1662_Thr1663del) rs1275942023
NM_005334.3(HCFC1):c.5035G>T (p.Ala1679Ser)
NM_005334.3(HCFC1):c.504-3C>T
NM_005334.3(HCFC1):c.5097_5126dup (p.Gln1699_Gln1708dup) rs2148561074
NM_005334.3(HCFC1):c.5192A>G (p.Asn1731Ser) rs1376359622
NM_005334.3(HCFC1):c.5212G>A (p.Gly1738Ser)
NM_005334.3(HCFC1):c.5276A>C (p.Asn1759Thr) rs782384589
NM_005334.3(HCFC1):c.5468T>C (p.Val1823Ala) rs2065309711
NM_005334.3(HCFC1):c.6029C>G (p.Thr2010Ser) rs2521430913
NM_005334.3(HCFC1):c.6094G>A (p.Ala2032Thr) rs2521426705
NM_005334.3(HCFC1):c.712+6C>T rs1165322624
NM_005334.3(HCFC1):c.73delinsCCAC (p.Trp25delinsProArg) rs2065524568
NM_005334.3(HCFC1):c.805G>A (p.Val269Met)
NM_005334.3(HCFC1):c.80G>A (p.Gly27Asp) rs2521819991
NM_005334.3(HCFC1):c.932T>C (p.Met311Thr) rs1317666410

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.