ClinVar Miner

Variants with conflicting interpretations "likely benign" from CSER _CC_NCGL, University of Washington and "likely pathogenic" from any submitter

Minimum review status of the submission from CSER _CC_NCGL, University of Washington: Collection method of the submission from CSER _CC_NCGL, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
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_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001

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