List of variants in gene TMEM43 reported as benign for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)	rs2340917	0.35127
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn)	rs4685076	0.29043
NM_024334.3(TMEM43):c.883-47C>T	rs2731320	0.16071
NM_024334.3(TMEM43):c.163-14C>T	rs113745859	0.02553
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp)	rs113449357	0.01077
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys)	rs35924492	0.00660
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp)	rs35028636	0.00535
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr)	rs139590716	0.00021

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