ClinVar Miner

List of variants reported as uncertain significance for Orofaciodigital syndrome type 6; Joubert syndrome 17 by Invitae

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Total variants: 21
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HGVS dbSNP
NM_001384732.1(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096
NM_001384732.1(CPLANE1):c.233G>T (p.Gly78Val) rs1554117507
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser) rs554483416
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655
NM_001384732.1(CPLANE1):c.4132C>T (p.Pro1378Ser) rs752467139
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724
NM_001384732.1(CPLANE1):c.5440A>G (p.Thr1814Ala) rs760844546
NM_001384732.1(CPLANE1):c.5570+5G>A rs1561516534
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985
NM_001384732.1(CPLANE1):c.6268G>A (p.Val2090Met) rs1561482827
NM_001384732.1(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val) rs200930248
NM_001384732.1(CPLANE1):c.8287G>A (p.Glu2763Lys) rs200612080
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388
NM_001384732.1(CPLANE1):c.8801A>G (p.His2934Arg) rs1014698599
NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys) rs374005945
NM_001384732.1(CPLANE1):c.8922G>T (p.Gly2974=) rs370013757
NM_001384732.1(CPLANE1):c.9169T>G (p.Cys3057Gly) rs760027584
NM_001384732.1(CPLANE1):c.916G>A (p.Val306Met) rs776434510
NM_001384732.1(CPLANE1):c.9688G>T (p.Ala3230Ser) rs1421414177

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