ClinVar Miner

List of variants in gene EMD reported as likely benign for not specified

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Gene type:
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Total variants: 26
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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.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.639T>C (p.Pro213=) rs782196388 0.00021
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00014
NM_000117.3(EMD):c.188-18C>G rs376439797 0.00009
NM_000117.3(EMD):c.400-14A>G rs781916367 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000117.3(EMD):c.188-12C>T rs371016049 0.00006
NM_000117.3(EMD):c.171C>T (p.Ser57=) rs900267221 0.00004
NM_000117.3(EMD):c.400-20G>A rs782354948 0.00003
NM_000117.3(EMD):c.-24C>T rs958112509 0.00002
NM_000117.3(EMD):c.276C>T (p.Asp92=) rs782680849 0.00002
NM_000117.3(EMD):c.333C>T (p.Ala111=) rs782216150 0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000117.3(EMD):c.266-19C>T rs1057522166 0.00001
NM_000117.3(EMD):c.444G>A (p.Lys148=) rs781889750 0.00001
NM_000117.3(EMD):c.57C>T (p.Tyr19=) rs371661299 0.00001
NM_000117.3(EMD):c.702C>T (p.Val234=) rs1057521076 0.00001
NM_000117.3(EMD):c.711C>T (p.Ile237=) rs727503037 0.00001
NM_000117.3(EMD):c.188-4C>T rs1557182352
NM_000117.3(EMD):c.396C>A (p.His132Gln) rs145985318
NM_000117.3(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.3(EMD):c.571A>G (p.Met191Val) rs397515752

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