List of variants studied for carbohydrate metabolism disease by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00154
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	rs121965020	0.00063
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	0.00008
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	rs770610356	0.00004
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)	rs374645146	0.00003
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro)	rs750441217	0.00002
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)	rs1358047518	0.00001
G6PD NARA	rs587776730
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000203.5(IDUA):c.876del (p.Asp292fs)	rs1553917209
NM_000404.4(GLB1):c.1077del (p.Val360fs)	rs727503952
NM_001040616.3(LINS1):c.361A>C (p.Lys121Gln)
NM_006516.4(SLC2A1):c.293del (p.Met98fs)	rs1643481831
NM_006618.5(KDM5B):c.2338A>G (p.Lys780Glu)	rs1244407080
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs)	rs1572705473
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA

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