ClinVar Miner

List of variants in gene CPLANE1 reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 26
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HGVS dbSNP
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_023073.3(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096
NM_023073.3(CPLANE1):c.233G>T (p.Gly78Val) rs1554117507
NM_023073.3(CPLANE1):c.2855A>G (p.Asn952Ser) rs554483416
NM_023073.3(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_023073.3(CPLANE1):c.4132C>T (p.Pro1378Ser) rs752467139
NM_023073.3(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724
NM_023073.3(CPLANE1):c.5440A>G (p.Thr1814Ala) rs760844546
NM_023073.3(CPLANE1):c.5570+5G>A rs1561516534
NM_023073.3(CPLANE1):c.5876A>G (p.Glu1959Gly) rs1230715850
NM_023073.3(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985
NM_023073.3(CPLANE1):c.6268G>A (p.Val2090Met) rs1561482827
NM_023073.3(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520
NM_023073.3(CPLANE1):c.7588+7A>G rs773662834
NM_023073.3(CPLANE1):c.7829A>T (p.Glu2610Val) rs200930248
NM_023073.3(CPLANE1):c.8125G>A (p.Glu2709Lys) rs200612080
NM_023073.3(CPLANE1):c.8516C>T (p.Pro2839Leu) rs147426388
NM_023073.3(CPLANE1):c.8639A>G (p.His2880Arg) rs1014698599
NM_023073.3(CPLANE1):c.8732A>G (p.Tyr2911Cys) rs374005945
NM_023073.3(CPLANE1):c.8760G>T (p.Gly2920=) rs370013757
NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) rs116198390
NM_023073.3(CPLANE1):c.8882G>A (p.Arg2961His) rs771622959
NM_023073.3(CPLANE1):c.9007T>G (p.Cys3003Gly) rs760027584
NM_023073.3(CPLANE1):c.916G>A (p.Val306Met) rs776434510
NM_023073.3(CPLANE1):c.9526G>T (p.Ala3176Ser) rs1421414177

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