ClinVar Miner

List of variants in gene GP9 studied for blood platelet disease

Included ClinVar conditions (105):
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Gene type:
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000174.5(GP9):c.132G>A (p.Thr44=) rs6069 0.03533
NM_000174.5(GP9):c.*7C>T rs115005114 0.02870
NM_000174.5(GP9):c.466G>A (p.Ala156Thr) rs3796130 0.01277
NM_000174.5(GP9):c.-87T>C rs146474708 0.00459
NM_000174.5(GP9):c.-124C>T rs144100272 0.00161
NM_000174.5(GP9):c.*38C>T rs774275281 0.00102
NM_000174.5(GP9):c.368C>T (p.Pro123Leu) rs202229101 0.00089
NM_000174.5(GP9):c.182A>G (p.Asn61Ser) rs5030764 0.00076
NM_000174.5(GP9):c.236C>T (p.Thr79Ile) rs200640594 0.00046
NM_000174.5(GP9):c.445T>C (p.Leu149=) rs144345517 0.00041
NM_000174.5(GP9):c.-78C>A rs886057960 0.00031
NM_000174.5(GP9):c.203C>T (p.Pro68Leu) rs145472050 0.00015
NM_000174.5(GP9):c.290G>A (p.Arg97His) rs146025958 0.00013
NM_000174.5(GP9):c.423G>A (p.Ala141=) rs553559631 0.00011
NM_000174.5(GP9):c.-128C>T rs554290942 0.00009
NM_000174.5(GP9):c.131C>T (p.Thr44Met) rs750293970 0.00009
NM_000174.5(GP9):c.334C>T (p.Arg112Cys) rs200489927 0.00009
NM_000174.5(GP9):c.-16G>T rs886057963 0.00005
NM_000174.5(GP9):c.123C>T (p.His41=) rs201755437 0.00005
NM_000174.5(GP9):c.18C>T (p.Ala6=) rs200376043 0.00004
NM_000174.5(GP9):c.438G>A (p.Pro146=) rs767278544 0.00003
NM_000174.5(GP9):c.533G>A (p.Ter178=) rs566144272 0.00003
NM_000174.5(GP9):c.212T>C (p.Phe71Ser) rs121918037 0.00001
NM_000174.5(GP9):c.501C>G (p.Gly167=) rs886057964 0.00001
NC_000003.12:g.129058767_129062425del
NM_000174.4(GP9):c.*143dupT rs11404362
NM_000174.5(GP9):c.*51C>T rs1946590225
NM_000174.5(GP9):c.-13+2T>C rs1357144982
NM_000174.5(GP9):c.-138-3C>G rs182464550
NM_000174.5(GP9):c.-210_*133del (p.Met1fs)
NM_000174.5(GP9):c.-30T>C rs886057962
NM_000174.5(GP9):c.-39G>A rs886057961
NM_000174.5(GP9):c.259T>C (p.Trp87Arg) rs766253334
NM_000174.5(GP9):c.284A>G (p.Tyr95Cys) rs1946583076
NM_000174.5(GP9):c.289C>T (p.Arg97Cys)
NM_000174.5(GP9):c.341C>T (p.Ala114Val) rs896687623
NM_000174.5(GP9):c.404G>T (p.Cys135Phe) rs769561588
NM_000174.5(GP9):c.429G>A (p.Trp143Ter)
NM_000174.5(GP9):c.524C>T (p.Ala175Val) rs760283361
NM_000174.5(GP9):c.70T>C (p.Cys24Arg) rs28933378
NM_000174.5(GP9):c.8_11dup (p.Trp4fs)

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