ClinVar Miner

List of variants in gene SEPTIN9 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_001113491.2(SEPTIN9):c.1423C>A (p.Gln475Lys) rs750807119
NM_001113491.2(SEPTIN9):c.1476+2T>G rs918808795
NM_001113491.2(SEPTIN9):c.1480A>G (p.Met494Val) rs1598472570
NM_001113491.2(SEPTIN9):c.1707C>A (p.Ser569Arg) rs1598484143
NM_001113491.2(SEPTIN9):c.1751C>T (p.Pro584Leu) rs753322947
NM_001113491.2(SEPTIN9):c.19+4829C>A rs1598462622
NM_001113491.2(SEPTIN9):c.216A>C (p.Glu72Asp) rs760234906
NM_001113491.2(SEPTIN9):c.538G>A (p.Ala180Thr) rs199861986
NM_001113491.2(SEPTIN9):c.614C>G (p.Ala205Gly) rs1598317173
NM_001113491.2(SEPTIN9):c.637C>T (p.Pro213Ser) rs1598317232
NM_001113491.2(SEPTIN9):c.722-6324del rs1598433427
NM_001113491.2(SEPTIN9):c.722-6334T>C rs752934838
NM_001113491.2(SEPTIN9):c.722-6589G>C rs202206729
NM_001113491.2(SEPTIN9):c.722-6624T>C rs746223748
NM_001113491.2(SEPTIN9):c.722-7T>C rs770521896
NM_001113491.2(SEPTIN9):c.751G>T (p.Asp251Tyr) rs536822441
NM_001113491.2(SEPTIN9):c.866G>A (p.Arg289His) rs587781247
NM_001113491.2(SEPTIN9):c.913+62_913+64delinsAGT rs1598444764

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