ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City and "uncertain significance" from any submitter

Minimum review status of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City: Collection method of the submission from Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City:
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ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700 0.00017
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter) rs80338714 0.00003
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_005957.5(MTHFR):c.680C>T (p.Thr227Met) rs748571395 0.00001
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_054012.4(ASS1):c.380G>T (p.Arg127Leu) rs201623252

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