List of variants in gene LOC126862422, MLYCD studied for inborn disorder of amino acid metabolism

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 65

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HGVS	dbSNP	gnomAD frequency
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala)	rs62640903	0.02854
NM_012213.3(MLYCD):c.799-16C>T	rs150789545	0.00413
NM_012213.3(MLYCD):c.925A>C (p.Lys309Gln)	rs149926091	0.00324
NM_012213.3(MLYCD):c.799-19C>T	rs371452638	0.00029
NM_012213.3(MLYCD):c.799-15G>A	rs367614213	0.00024
NM_012213.3(MLYCD):c.892C>G (p.Leu298Val)	rs563907654	0.00013
NM_012213.3(MLYCD):c.901G>C (p.Val301Leu)	rs199656023	0.00006
NM_012213.3(MLYCD):c.939G>A (p.Lys313=)	rs1014990867	0.00006
NM_012213.3(MLYCD):c.948+11C>T	rs568952897	0.00006
NM_012213.3(MLYCD):c.880A>G (p.Thr294Ala)	rs200365808	0.00004
NM_012213.3(MLYCD):c.887A>C (p.Gln296Pro)	rs199761233	0.00004
NM_012213.3(MLYCD):c.933C>T (p.Val311=)	rs757687650	0.00004
NM_012213.3(MLYCD):c.948+10A>G	rs372958512	0.00004
NM_012213.3(MLYCD):c.894C>G (p.Leu298=)	rs368719157	0.00003
NM_012213.3(MLYCD):c.879G>A (p.Leu293=)	rs1907207894	0.00002
NM_012213.3(MLYCD):c.799-4C>T	rs1434940922	0.00001
NM_012213.3(MLYCD):c.907C>A (p.Leu303Met)	rs766903457	0.00001
NM_012213.3(MLYCD):c.913A>G (p.Thr305Ala)	rs200745228	0.00001
NM_012213.3(MLYCD):c.928C>T (p.Arg310Ter)	rs759043861	0.00001
NM_012213.3(MLYCD):c.948+7G>A	rs768723084	0.00001
NM_012213.3(MLYCD):c.799-19C>A
NM_012213.3(MLYCD):c.799-2A>G
NM_012213.3(MLYCD):c.802A>T (p.Ile268Phe)
NM_012213.3(MLYCD):c.805G>A (p.Val269Met)
NM_012213.3(MLYCD):c.813A>G (p.Glu271=)
NM_012213.3(MLYCD):c.814C>T (p.His272Tyr)	rs112428248
NM_012213.3(MLYCD):c.822A>C (p.Pro274=)
NM_012213.3(MLYCD):c.826G>C (p.Glu276Gln)
NM_012213.3(MLYCD):c.830C>T (p.Thr277Ile)
NM_012213.3(MLYCD):c.837G>A (p.Glu279=)
NM_012213.3(MLYCD):c.837GAA[1] (p.Lys280del)
NM_012213.3(MLYCD):c.843C>G (p.Asn281Lys)
NM_012213.3(MLYCD):c.849C>T (p.Ile283=)
NM_012213.3(MLYCD):c.858G>A (p.Ala286=)
NM_012213.3(MLYCD):c.858G>C (p.Ala286=)
NM_012213.3(MLYCD):c.859A>G (p.Ile287Val)
NM_012213.3(MLYCD):c.861C>A (p.Ile287=)	rs957509653
NM_012213.3(MLYCD):c.861C>T (p.Ile287=)
NM_012213.3(MLYCD):c.862T>C (p.Phe288Leu)
NM_012213.3(MLYCD):c.869C>T (p.Ser290Phe)
NM_012213.3(MLYCD):c.870C>T (p.Ser290=)
NM_012213.3(MLYCD):c.873C>T (p.Ile291=)
NM_012213.3(MLYCD):c.875G>A (p.Ser292Asn)	rs139159660
NM_012213.3(MLYCD):c.875del (p.Ser292fs)
NM_012213.3(MLYCD):c.876C>T (p.Ser292=)
NM_012213.3(MLYCD):c.897A>G (p.Gln299=)
NM_012213.3(MLYCD):c.904G>A (p.Glu302Lys)
NM_012213.3(MLYCD):c.906G>A (p.Glu302=)
NM_012213.3(MLYCD):c.910G>T (p.Gly304Ter)
NM_012213.3(MLYCD):c.921C>G (p.Leu307=)
NM_012213.3(MLYCD):c.921C>T (p.Leu307=)
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln)	rs146465073
NM_012213.3(MLYCD):c.929G>C (p.Arg310Pro)	rs146465073
NM_012213.3(MLYCD):c.930A>C (p.Arg310=)
NM_012213.3(MLYCD):c.934G>A (p.Val312Ile)
NM_012213.3(MLYCD):c.936C>T (p.Val312=)
NM_012213.3(MLYCD):c.942G>T (p.Glu314Asp)
NM_012213.3(MLYCD):c.948+11C>G
NM_012213.3(MLYCD):c.948+12G>A
NM_012213.3(MLYCD):c.948+12G>T
NM_012213.3(MLYCD):c.948+17G>T
NM_012213.3(MLYCD):c.948+19G>A
NM_012213.3(MLYCD):c.948+20C>T
NM_012213.3(MLYCD):c.948+8A>G	rs2151058806
NM_012213.3(MLYCD):c.948+9C>T	rs2151058807

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