List of variants in gene combination LOC129930446, MMACHC reported as uncertain significance for hematologic disorder

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.641G>A (p.Arg214His)	rs202189863	0.00010
NM_015506.3(MMACHC):c.650A>T (p.Glu217Val)	rs199641732	0.00009
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)	rs201183360	0.00006
NM_015506.3(MMACHC):c.683C>T (p.Ala228Val)	rs201269886	0.00002
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)	rs538023671	0.00001
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)	rs369621922	0.00001
NM_015506.3(MMACHC):c.602G>A (p.Arg201His)
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)	rs371753672
NM_015506.3(MMACHC):c.626T>A (p.Val209Glu)
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.631C>T (p.Pro211Ser)	rs192924272
NM_015506.3(MMACHC):c.643T>C (p.Tyr215His)	rs755843695
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)	rs483352740
NM_015506.3(MMACHC):c.650A>G (p.Glu217Gly)	rs199641732

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