List of variants studied for carbohydrate metabolism disease by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)	rs137853063	0.00006
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn)	rs137854544	0.00005
NM_000278.5(PAX2):c.511T>C (p.Ser171Pro)	rs781489326	0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	rs773138218	0.00001
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter)	rs111033806
NM_000158.4(GBE1):c.1861CTT[1] (p.Leu622del)	rs1576137368
NM_000158.4(GBE1):c.776C>G (p.Ala259Gly)	rs1576183525
NM_000202.8(IDS):c.613G>A (p.Ala205Thr)	rs864622779
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs)	rs875989777
NM_000458.4(HNF1B):c.1132dup (p.Gln378fs)	rs1057519371
NM_003384.3(VRK1):c.706G>A (p.Val236Met)	rs771364038

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