ClinVar Miner

Variants in gene EMD with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_000117.3(EMD):c.466G>A (p.Gly156Ser) rs144594695 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000117.3(EMD):c.108G>A (p.Lys36=) rs1057521050 0.00005
NM_000117.3(EMD):c.525C>T (p.Ser175=) rs782367505 0.00005
NM_000117.3(EMD):c.234G>A (p.Lys78=) rs781889152 0.00003
NM_000117.3(EMD):c.276C>T (p.Asp92=) rs782680849 0.00002
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002

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