ClinVar Miner

List of variants in gene GUSB reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_000181.4(GUSB):c.1065+27C>G rs781143 0.52153
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_000181.4(GUSB):c.-12G>A rs2279903 0.01784
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849 0.00909
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00006
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser) rs886044680 0.00001
NM_000181.4(GUSB):c.1169A>G (p.Glu390Gly) rs398123235
NM_000181.4(GUSB):c.1476+3G>A rs886042522
NM_000181.4(GUSB):c.266A>G (p.Asp89Gly) rs398123236
NM_000181.4(GUSB):c.295G>A (p.Val99Met) rs398123237
NM_000181.4(GUSB):c.328C>T (p.Arg110Ter) rs1053785648
NM_000181.4(GUSB):c.724+23TC[3] rs3830444
NM_000181.4(GUSB):c.866G>A (p.Trp289Ter) rs398123238

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