List of variants in gene EMD studied for Cardiovascular phenotype

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 89

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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.646G>A (p.Gly216Arg)	rs147920229	0.00026
NM_000117.3(EMD):c.639T>C (p.Pro213=)	rs782196388	0.00021
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.272A>G (p.Asn91Ser)	rs137977232	0.00018
NM_000117.3(EMD):c.432A>G (p.Glu144=)	rs377125466	0.00014
NM_000117.3(EMD):c.537G>A (p.Leu179=)	rs368661339	0.00014
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)	rs374981936	0.00011
NM_000117.3(EMD):c.12C>T (p.Tyr4=)	rs782011714	0.00007
NM_000117.3(EMD):c.166G>A (p.Ala56Thr)	rs1057520579	0.00005
NM_000117.3(EMD):c.215A>T (p.Asp72Val)	rs794729021	0.00005
NM_000117.3(EMD):c.525C>T (p.Ser175=)	rs782367505	0.00005
NM_000117.3(EMD):c.171C>T (p.Ser57=)	rs900267221	0.00004
NM_000117.3(EMD):c.183C>T (p.Phe61=)	rs782643028	0.00004
NM_000117.3(EMD):c.30C>G (p.Thr10=)	rs145781828	0.00004
NM_000117.3(EMD):c.459C>T (p.Pro153=)	rs782147479	0.00004
NM_000117.3(EMD):c.585A>G (p.Ser195=)	rs140970151	0.00004
NM_000117.3(EMD):c.110A>T (p.Lys37Met)	rs1085307681	0.00003
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)	rs781797234	0.00003
NM_000117.3(EMD):c.243C>T (p.Asp81=)	rs150757295	0.00003
NM_000117.3(EMD):c.267C>G (p.Gly89=)	rs1201464258	0.00003
NM_000117.3(EMD):c.390C>T (p.Phe130=)	rs781952981	0.00003
NM_000117.3(EMD):c.449+5G>A	rs370840449	0.00003
NM_000117.3(EMD):c.502C>T (p.Arg168Cys)	rs886044839	0.00003
NM_000117.3(EMD):c.672G>A (p.Pro224=)	rs1267603257	0.00003
NM_000117.3(EMD):c.677G>C (p.Trp226Ser)	rs141732118	0.00003
NM_000117.3(EMD):c.714C>T (p.Val238=)	rs782290874	0.00003
NM_000117.3(EMD):c.148C>T (p.Pro50Ser)	rs781936763	0.00002
NM_000117.3(EMD):c.276C>T (p.Asp92=)	rs782680849	0.00002
NM_000117.3(EMD):c.422C>T (p.Ser141Phe)	rs1262954618	0.00002
NM_000117.3(EMD):c.572T>C (p.Met191Thr)	rs782244432	0.00002
NM_000117.3(EMD):c.611G>A (p.Arg204His)	rs782642152	0.00002
NM_000117.3(EMD):c.618C>T (p.Ile206=)	rs782496874	0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu)	rs782057378	0.00002
NM_000117.3(EMD):c.103G>A (p.Glu35Lys)	rs782222974	0.00001
NM_000117.3(EMD):c.242A>G (p.Asp81Gly)	rs1557182377	0.00001
NM_000117.3(EMD):c.315T>C (p.Tyr105=)	rs1342409944	0.00001
NM_000117.3(EMD):c.359C>T (p.Ser120Leu)	rs782038352	0.00001
NM_000117.3(EMD):c.385G>A (p.Ala129Thr)	rs782768362	0.00001
NM_000117.3(EMD):c.436G>A (p.Glu146Lys)	rs782732591	0.00001
NM_000117.3(EMD):c.582A>C (p.Ser194=)	rs781933286	0.00001
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)	rs132630262
NM_000117.3(EMD):c.144C>G (p.Leu48=)	rs200537612
NM_000117.3(EMD):c.147G>T (p.Ser49=)
NM_000117.3(EMD):c.153dup (p.Ser52fs)	rs876661345
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys)	rs2148128196
NM_000117.3(EMD):c.18T>A (p.Asp6Glu)
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
NM_000117.3(EMD):c.217dup (p.Met73fs)
NM_000117.3(EMD):c.264G>C (p.Lys88Asn)
NM_000117.3(EMD):c.294C>T (p.Ser98=)	rs2148128485
NM_000117.3(EMD):c.302C>G (p.Thr101Ser)
NM_000117.3(EMD):c.317G>A (p.Gly106Glu)	rs1312994862
NM_000117.3(EMD):c.325G>C (p.Glu109Gln)
NM_000117.3(EMD):c.330T>C (p.Ser110=)	rs782666989
NM_000117.3(EMD):c.33G>A (p.Glu11=)	rs782121776
NM_000117.3(EMD):c.345G>A (p.Arg115=)
NM_000117.3(EMD):c.396C>A (p.His132Gln)	rs145985318
NM_000117.3(EMD):c.400-3C>T
NM_000117.3(EMD):c.411C>T (p.Asp137=)	rs2148128718
NM_000117.3(EMD):c.425C>T (p.Ser142Phe)	rs2067882775
NM_000117.3(EMD):c.449+3G>A
NM_000117.3(EMD):c.449+4C>T	rs886044810
NM_000117.3(EMD):c.460A>G (p.Met154Val)	rs782806462
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)	rs144594695
NM_000117.3(EMD):c.486G>A (p.Gln162=)
NM_000117.3(EMD):c.490A>C (p.Ile164Leu)	rs2067884058
NM_000117.3(EMD):c.495G>T (p.Thr165=)	rs151074632
NM_000117.3(EMD):c.497A>G (p.His166Arg)	rs1016943599
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)	rs2067884177
NM_000117.3(EMD):c.513A>G (p.Ser171=)
NM_000117.3(EMD):c.535C>T (p.Leu179=)	rs1260147167
NM_000117.3(EMD):c.548C>G (p.Pro183Arg)
NM_000117.3(EMD):c.54G>A (p.Arg18=)
NM_000117.3(EMD):c.621G>T (p.Arg207=)
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
NM_000117.3(EMD):c.715C>T (p.Leu239Phe)	rs2067886585
NM_000117.3(EMD):c.720C>T (p.Phe240=)	rs2067886666
NM_000117.3(EMD):c.72G>T (p.Gly24=)
NM_000117.3(EMD):c.741G>A (p.Gln247=)
NM_000117.3(EMD):c.77T>C (p.Val26Ala)	rs727505029
NM_000117.3(EMD):c.82G>A (p.Gly28Arg)	rs1064797380
NM_000117.3(EMD):c.92G>T (p.Arg31Leu)	rs2148128120
NM_000117.3(EMD):c.97C>G (p.Leu33Val)

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