List of variants in gene combination LOC129930446, MMACHC reported as likely pathogenic for anemia

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)	rs371753672	0.00017
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	rs201183360	0.00006
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
NM_015506.3(MMACHC):c.614dup (p.Tyr205Ter)
NM_015506.3(MMACHC):c.616del (p.Arg206fs)	rs1163462384
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	rs371753672
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)	rs765913293
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)	rs1356587420
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)

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