ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Genetics and Genomics, Karolinska University Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from Clinical Genetics and Genomics, Karolinska University Hospital: Collection method of the submission from Clinical Genetics and Genomics, Karolinska University Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 29
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000500.9(CYP21A2):c.719T>A (p.Met240Lys) rs6476 0.00523
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp) rs138943074 0.00038
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 0.00003
NM_005787.6(ALG3):c.349C>T (p.Arg117Ter) rs753238253 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000059.4(BRCA2):c.1773_1776del (p.Ile591fs) rs80359304
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter) rs1650332196
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_024740.2(ALG9):c.1173+2T>A rs786205134

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