ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas and "uncertain significance" from any submitter

Minimum review status of the submission from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas: Collection method of the submission from Zotz-Klimas Genetics Lab, MVZ Zotz Klimas:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001321739.2(M1AP):c.676dup (p.Trp226fs) rs144217347 0.00238
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_005912.3(MC4R):c.496G>A (p.Val166Ile) rs942758928 0.00001
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)

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