List of variants in gene TMEM43 reported as uncertain significance for not specified

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: 44

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HGVS	dbSNP	gnomAD frequency
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys)	rs145619906	0.00069
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn)	rs150425166	0.00035
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)	rs369878538	0.00017
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr)	rs369142200	0.00014
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)	rs367910936	0.00013
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)	rs144811578	0.00009
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)	rs544554435	0.00008
NM_024334.3(TMEM43):c.-4C>T	rs760598925	0.00007
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp)	rs201138253	0.00006
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)	rs201094625	0.00004
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)	rs397517384	0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)	rs199526104	0.00004
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)	rs773224617	0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)	rs140347235	0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)	rs757651177	0.00003
NM_024334.3(TMEM43):c.1000+5G>T	rs376589026	0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala)	rs182351748	0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)	rs397517386	0.00002
NM_024334.3(TMEM43):c.1000+2T>C	rs748618994	0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs)	rs746672224	0.00001
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His)	rs727505249	0.00001
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr)	rs397517385	0.00001
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)	rs143735210	0.00001
NM_024334.3(TMEM43):c.705+5G>T	rs754716462	0.00001
NM_024334.3(TMEM43):c.883-15C>A	rs727504984	0.00001
NM_024334.3(TMEM43):c.961A>G (p.Met321Val)	rs397517387	0.00001
NM_024334.3(TMEM43):c.1019T>G (p.Phe340Cys)	rs1559363663
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser)	rs187262922
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)	rs193922706
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe)	rs193922706
NM_024334.3(TMEM43):c.1156C>T (p.Pro386Ser)	rs1430520295
NM_024334.3(TMEM43):c.163-1G>C	rs1060499911
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg)	rs199943048
NM_024334.3(TMEM43):c.337G>A (p.Val113Met)	rs572474708
NM_024334.3(TMEM43):c.392+4A>G	rs397517382
NM_024334.3(TMEM43):c.442+19dup	rs768508021
NM_024334.3(TMEM43):c.486_489del (p.Asp162fs)	rs1060499910
NM_024334.3(TMEM43):c.583+3A>G	rs876658021
NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter)	rs1695063853
NM_024334.3(TMEM43):c.743T>G (p.Leu248Arg)	rs774356401
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln)	rs769969149
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val)	rs727504764
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr)	rs771028028
NM_024334.3(TMEM43):c.883-15C>G

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