List of variants in gene combination LOC130001681, SIGMAR1 reported as pathogenic for autosomal recessive disease

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_005866.4(SIGMAR1):c.86G>A (p.Trp29Ter)	rs1449250083	0.00003
NM_005866.4(SIGMAR1):c.125_126del (p.Ile42fs)
NM_005866.4(SIGMAR1):c.13del (p.Val5fs)	rs1564096761
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs)	rs1820936580
NM_005866.4(SIGMAR1):c.151+1G>T	rs796065352
NM_005866.4(SIGMAR1):c.19del (p.Arg7fs)	rs747285235

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