ClinVar Miner

List of variants in gene EMD reported as likely benign

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Gene type:
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Total variants: 38
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HGVS dbSNP
NM_000117.2(EMD):c.-24C>T rs958112509
NM_000117.2(EMD):c.108G>A (p.Lys36=) rs1057521050
NM_000117.2(EMD):c.12C>T (p.Tyr4=) rs782011714
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.171C>T (p.Ser57=) rs900267221
NM_000117.2(EMD):c.188-13C>T rs782141516
NM_000117.2(EMD):c.188-18C>G rs376439797
NM_000117.2(EMD):c.188-4C>T rs1557182352
NM_000117.2(EMD):c.188-52G>A
NM_000117.2(EMD):c.266-19C>T rs1057522166
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.276C>T (p.Asp92=) rs782680849
NM_000117.2(EMD):c.315T>C (p.Tyr105=) rs1342409944
NM_000117.2(EMD):c.330T>C (p.Ser110=) rs782666989
NM_000117.2(EMD):c.333C>T (p.Ala111=) rs782216150
NM_000117.2(EMD):c.396C>A (p.His132Gln) rs145985318
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.400-14A>G rs781916367
NM_000117.2(EMD):c.400-20G>A rs782354948
NM_000117.2(EMD):c.400-9C>T rs782061626
NM_000117.2(EMD):c.400-9_400-8delCT rs1427015192
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.432A>G (p.Glu144=) rs377125466
NM_000117.2(EMD):c.444G>A (p.Lys148=) rs781889750
NM_000117.2(EMD):c.459C>T (p.Pro153=)
NM_000117.2(EMD):c.466G>A (p.Gly156Ser) rs144594695
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.2(EMD):c.489C>T (p.Ser163=) rs782558454
NM_000117.2(EMD):c.495G>A (p.Thr165=) rs151074632
NM_000117.2(EMD):c.525C>T (p.Ser175=) rs782367505
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.2(EMD):c.571A>G (p.Met191Val) rs397515752
NM_000117.2(EMD):c.57C>T (p.Tyr19=) rs371661299
NM_000117.2(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.2(EMD):c.662G>T (p.Arg221Leu) rs782057378
NM_000117.2(EMD):c.702C>T (p.Val234=) rs1057521076
NM_000117.2(EMD):c.711C>T (p.Ile237=) rs727503037
NM_000117.2(EMD):c.746A>G (p.Glu249Gly) rs781947413

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