ClinVar Miner

Variants with conflicting interpretations "benign" from Illumina Laboratory Services, Illumina and "risk factor" from any submitter

Minimum review status of the submission from Illumina Laboratory Services, Illumina: Collection method of the submission from Illumina Laboratory Services, Illumina:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_000186.4(CFH):c.184G>A (p.Val62Ile) rs800292 0.40446
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser) rs10490924 0.22973
NM_025225.3(PNPLA3):c.444C>G (p.Ile148Met) rs738409 0.21657
NM_000254.3(MTR):c.2756A>G (p.Asp919Gly) rs1805087 0.21137
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_000361.3(THBD):c.127G>A (p.Ala43Thr) rs1800576 0.00255
NM_006208.3(ENPP1):c.2101-11del rs397832689
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255

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