ClinVar Miner

List of variants reported as pathogenic for VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2

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Total variants: 3
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NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) rs770642379
NM_003937.3(KYNU):c.170-1G>T rs1135401744
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) rs758865880

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