ClinVar Miner

List of variants reported as benign for Niemann-Pick disease, type C2 by Invitae

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Total variants: 4
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NM_006432.4(NPC2):c.363+7G>A rs200463204
NM_006432.4(NPC2):c.442-4A>C rs114950106
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820

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