ClinVar Miner

List of variants in gene combination CAV3, SSUH2 reported as not provided

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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_033337.2(CAV3):c.(?_-67)_(*898_?)del
NM_033337.2(CAV3):c.-106G>A rs2072583
NM_033337.2(CAV3):c.-122C>T rs918317
NM_033337.2(CAV3):c.-15C>A rs569240109
NM_033337.2(CAV3):c.-37G>A rs116840771
NM_033337.2(CAV3):c.100G>A (p.Glu34Lys) rs199476325
NM_033337.2(CAV3):c.114+26G>A rs11922879
NM_033337.2(CAV3):c.114+2T>C rs116840787
NM_033337.2(CAV3):c.114+99T>C rs4686299
NM_033337.2(CAV3):c.13dup (p.Glu5fs) rs199476323
NM_033337.2(CAV3):c.27C>T (p.Leu9=) rs1974763
NM_033337.2(CAV3):c.40G>C (p.Val14Leu) rs121909281
NM_033337.2(CAV3):c.79C>G (p.Arg27Gly) rs199476324
NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) rs116840778
NM_033337.2(CAV3):c.80G>C (p.Arg27Pro) rs116840778
NM_033337.2(CAV3):c.84C>A (p.Asp28Glu) rs116840782
NM_033337.2(CAV3):c.85C>A (p.Pro29Thr) rs116840785
NM_033337.2(CAV3):c.86C>T (p.Pro29Leu) rs116840786
NM_033337.2(CAV3):c.99C>G (p.Asn33Lys) rs1008642
NM_033337.2(CAV3):c.99C>T (p.Asn33=) rs1008642

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