List of variants in gene MMACHC reported as likely pathogenic by Counsyl

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)	rs1347498294	0.00001
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)	rs1553162788
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)	rs1553162821
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)	rs574983400
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)	rs574983400
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)	rs1311416761
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)	rs121918240
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter)	rs1553162857
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)	rs1553162868
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)	rs1002571805
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)	rs1481893137
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs)	rs1553162931
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015506.3(MMACHC):c.565del (p.Arg189fs)	rs1257204721
NM_015506.3(MMACHC):c.574del (p.Leu192fs)	rs1553162943
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter)	rs755881820
NM_015506.3(MMACHC):c.81+2T>G	rs777251123
NM_015506.3(MMACHC):c.82-1G>A	rs1255179780
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	rs771673343

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