List of variants in gene TMEM43 reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 112

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HGVS	dbSNP	gnomAD frequency
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)	rs730880226	0.00009
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)	rs368603914	0.00006
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu)	rs140380494	0.00006
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met)	rs899266809	0.00004
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)	rs1423539317	0.00004
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)	rs147336367	0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)	rs780389237	0.00004
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)	rs752269639	0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)	rs773224617	0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)	rs730880225	0.00003
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser)	rs371797765	0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)	rs757651177	0.00003
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg)	rs368111230	0.00003
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu)	rs730880227	0.00002
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg)	rs1169613716	0.00002
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met)	rs1362645227	0.00002
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln)	rs568179990	0.00002
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)	rs549809535	0.00002
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met)	rs754236206	0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)	rs765762863	0.00001
NM_024334.3(TMEM43):c.167G>A (p.Arg56His)	rs747164382	0.00001
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)	rs1225730180	0.00001
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe)	rs577359875	0.00001
NM_024334.3(TMEM43):c.235A>G (p.Ser79Gly)	rs930770110	0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)	rs148171303	0.00001
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr)	rs555913548	0.00001
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro)	rs376182664	0.00001
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile)	rs754381041	0.00001
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn)	rs778405877	0.00001
NM_024334.3(TMEM43):c.500A>G (p.His167Arg)	rs775986881	0.00001
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val)	rs553757132	0.00001
NM_024334.3(TMEM43):c.606del (p.Phe203fs)	rs753024549	0.00001
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)	rs143735210	0.00001
NM_024334.3(TMEM43):c.659G>A (p.Arg220His)	rs570836197	0.00001
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)	rs751419150	0.00001
NM_024334.3(TMEM43):c.705+5G>T	rs754716462	0.00001
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn)	rs375481688	0.00001
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe)	rs373644386	0.00001
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln)	rs185611706	0.00001
NM_024334.3(TMEM43):c.-3A>G	rs763829810
NM_024334.3(TMEM43):c.1006T>C (p.Trp336Arg)
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu)	rs17856369
NM_024334.3(TMEM43):c.1015G>A (p.Val339Ile)
NM_024334.3(TMEM43):c.1019T>G (p.Phe340Cys)	rs1559363663
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser)	rs758981622
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe)	rs187262922
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile)	rs1181935816
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser)	rs752269639
NM_024334.3(TMEM43):c.1116_1129dup (p.Leu377fs)
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
NM_024334.3(TMEM43):c.1136T>C (p.Ile379Thr)
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp)	rs1574942204
NM_024334.3(TMEM43):c.1196T>G (p.Leu399Trp)	rs1559363776
NM_024334.3(TMEM43):c.1201T>C (p.Ter401Arg)
NM_024334.3(TMEM43):c.131T>C (p.Leu44Pro)
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser)	rs1553602871
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
NM_024334.3(TMEM43):c.17C>G (p.Ser6Cys)
NM_024334.3(TMEM43):c.19A>G (p.Ser7Gly)
NM_024334.3(TMEM43):c.1A>G (p.Met1Val)	rs757083718
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val)	rs766792876
NM_024334.3(TMEM43):c.227del (p.Ser76fs)
NM_024334.3(TMEM43):c.237T>G (p.Ser79Arg)
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)	rs771454768
NM_024334.3(TMEM43):c.258_261del (p.Arg87fs)
NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro)	rs748343919
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg)	rs199943048
NM_024334.3(TMEM43):c.304T>G (p.Ser102Ala)
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)	rs201085402
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
NM_024334.3(TMEM43):c.334G>T (p.Ala112Ser)
NM_024334.3(TMEM43):c.348del (p.Arg117fs)	rs2124987856
NM_024334.3(TMEM43):c.370T>G (p.Trp124Gly)
NM_024334.3(TMEM43):c.409G>A (p.Gly137Arg)
NM_024334.3(TMEM43):c.410G>A (p.Gly137Glu)	rs760628106
NM_024334.3(TMEM43):c.41A>G (p.His14Arg)
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)	rs145619906
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)	rs1369869806
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp)	rs949064136
NM_024334.3(TMEM43):c.496G>A (p.Gly166Ser)
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
NM_024334.3(TMEM43):c.541A>G (p.Thr181Ala)
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val)	rs1394010451
NM_024334.3(TMEM43):c.626C>A (p.Ser209Tyr)	rs1553603146
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu)	rs143735210
NM_024334.3(TMEM43):c.649G>A (p.Asp217Asn)	rs2124990891
NM_024334.3(TMEM43):c.652A>G (p.Ile218Val)
NM_024334.3(TMEM43):c.658C>A (p.Arg220Ser)
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu)	rs1559361776
NM_024334.3(TMEM43):c.694A>G (p.Lys232Glu)
NM_024334.3(TMEM43):c.706-1G>T
NM_024334.3(TMEM43):c.706G>A (p.Val236Met)
NM_024334.3(TMEM43):c.718_719delinsGA (p.Arg240Asp)	rs1553603172
NM_024334.3(TMEM43):c.724del (p.Ser242fs)
NM_024334.3(TMEM43):c.749dup (p.Asp251fs)	rs1695151947
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg)	rs1427535931
NM_024334.3(TMEM43):c.861C>G (p.His287Gln)	rs886039048
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr)	rs771028028
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)	rs990243563
NM_024334.3(TMEM43):c.891T>G (p.Phe297Leu)
NM_024334.3(TMEM43):c.905G>T (p.Arg302Met)
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
NM_024334.3(TMEM43):c.908_909delinsAT (p.Ser303Asn)
NM_024334.3(TMEM43):c.917T>C (p.Met306Thr)
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr)	rs1553603453
NM_024334.3(TMEM43):c.918G>T (p.Met306Ile)
NM_024334.3(TMEM43):c.946T>A (p.Trp316Arg)
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
NM_024334.3(TMEM43):c.964G>A (p.Gly322Ser)	rs1231932407
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp)	rs1365389365
NM_024334.3(TMEM43):c.971del (p.Asn324fs)	rs1553603465
NM_024334.3(TMEM43):c.978G>T (p.Met326Ile)

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