List of variants reported as likely pathogenic for Niemann-Pick disease, type C2 by Counsyl

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006432.5(NPC2):c.191-1_193del	rs1555345873
NM_006432.5(NPC2):c.1A>G (p.Met1Val)	rs1555346369
NM_006432.5(NPC2):c.2T>C (p.Met1Thr)	rs1555346368
NM_006432.5(NPC2):c.364-2A>G	rs777654308
NM_006432.5(NPC2):c.3G>A (p.Met1Ile)	rs483352893
NM_006432.5(NPC2):c.422G>A (p.Trp141Ter)	rs1555345616
NM_006432.5(NPC2):c.436C>T (p.Gln146Ter)	rs104894457

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