List of variants reported as pathogenic for nutritional disorder by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00011
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)	rs372947070	0.00007
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)	rs376128990	0.00004
NM_018129.4(PNPO):c.364-1G>A	rs774710082	0.00002
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)	rs397514429	0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)	rs119103232	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00001
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)	rs80338785
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter)	rs760636660
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)	rs80338684
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)	rs111033566
NM_018129.4(PNPO):c.784T>C (p.Ter262Gln)	rs104894631

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