ClinVar Miner

List of variants in gene EMD reported by GeneDx

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Gene type:
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Total variants: 54
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HGVS dbSNP
NM_000117.2(EMD):c.-24C>T rs958112509
NM_000117.2(EMD):c.103G>T (p.Glu35Ter) rs782222974
NM_000117.2(EMD):c.108G>A (p.Lys36=) rs1057521050
NM_000117.2(EMD):c.110A>T (p.Lys37Met) rs1085307681
NM_000117.2(EMD):c.115_117del (p.Phe39del) rs781959238
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.166G>A (p.Ala56Thr) rs1057520579
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.1A>G (p.Met1Val) rs267606782
NM_000117.2(EMD):c.20T>A (p.Leu7His) rs794729016
NM_000117.2(EMD):c.215A>T (p.Asp72Val) rs794729021
NM_000117.2(EMD):c.266-19C>T rs1057522166
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.333C>T (p.Ala111=) rs782216150
NM_000117.2(EMD):c.355C>A (p.Gln119Lys) rs398123157
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.399+18C>T rs182540760
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.419T>A (p.Leu140Ter) rs1057524848
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.436G>A (p.Glu146Lys) rs782732591
NM_000117.2(EMD):c.444G>A (p.Lys148=) rs781889750
NM_000117.2(EMD):c.445G>C (p.Asp149His) rs2070818
NM_000117.2(EMD):c.449+5G>A rs370840449
NM_000117.2(EMD):c.459C>T (p.Pro153=)
NM_000117.2(EMD):c.465C>T (p.Tyr155=) rs143447675
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.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.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.2(EMD):c.559T>C (p.Ser187Pro) rs794729012
NM_000117.2(EMD):c.571A>G (p.Met191Val) rs397515752
NM_000117.2(EMD):c.608G>A (p.Arg203His) rs144842093
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.2(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.2(EMD):c.610C>T (p.Arg204Cys) rs782299893
NM_000117.2(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.2(EMD):c.65C>T (p.Pro22Leu) rs794729017
NM_000117.2(EMD):c.662G>T (p.Arg221Leu) rs782057378
NM_000117.2(EMD):c.671C>T (p.Pro224Leu) rs782559230
NM_000117.2(EMD):c.702C>T (p.Val234=) rs1057521076
NM_000117.2(EMD):c.746A>G (p.Glu249Gly) rs781947413

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