ClinVar Miner

Variants with conflicting interpretations "benign" from Mendelics and "risk factor" from any submitter

Minimum review status of the submission from Mendelics: Collection method of the submission from Mendelics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000313.4(PROS1):c.1528G>A (p.Val510Met) rs138925964 0.00331
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His) rs34181110 0.00241
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu) rs34377097 0.00002

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