List of variants studied for vitamin B12 deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00014
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	rs28941784	0.00014
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)	rs369296618	0.00004
NM_005334.3(HCFC1):c.3731G>A (p.Arg1244His)	rs782013532	0.00003
NM_001081.4(CUBN):c.10233G>A (p.Trp3411Ter)	rs144484373	0.00002
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)	rs782010359	0.00002
NM_005334.3(HCFC1):c.4315A>C (p.Asn1439His)	rs782138046	0.00002
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_001081.4(CUBN):c.2839G>T (p.Gly947Cys)	rs2131844929
NM_001081.4(CUBN):c.4350+5G>A	rs200324164
NM_001081.4(CUBN):c.6894_6901dup (p.Leu2301Ter)
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
NM_005334.3(HCFC1):c.5030G>A (p.Gly1677Asp)
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg)	rs955468279
NM_015506.3(MMACHC):c.701del (p.Leu234fs)	rs767339897

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