ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India and "uncertain significance" from any submitter

Minimum review status of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India: Collection method of the submission from Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 32
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HGVS dbSNP gnomAD frequency
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001414.4(EIF2B1):c.439C>T (p.Arg147Ter) rs370678173 0.00004
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) rs2152811823
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu) rs121909741
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp) rs2143001744
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp) rs771864122
NM_004273.5(CHST3):c.430G>A (p.Gly144Ser) rs1360950889
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) rs774599785
NM_005993.5(TBCD):c.1126G>A (p.Val376Met) rs183349235
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val)
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) rs773779627

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