ClinVar Miner

List of variants in gene GUSB reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000181.4(GUSB):c.*172A>G
NM_000181.4(GUSB):c.*55C>T rs372605666
NM_000181.4(GUSB):c.-12G>A rs2279903
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849
NM_000181.4(GUSB):c.1653+151A>G rs1880555
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361
NM_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979
NM_000181.4(GUSB):c.725-16C>T

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