List of variants reported as likely pathogenic for Niemann-Pick disease type C by Fulgent Genetics, Fulgent Genetics

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)	rs377515417	0.00003
NM_006432.5(NPC2):c.190+5G>A	rs80358268	0.00002
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)	rs120074135	0.00001
NM_000271.5(NPC1):c.3056A>G (p.Tyr1019Cys)	rs781261962	0.00001
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)	rs1376058648	0.00001
NM_000271.5(NPC1):c.2179del (p.Val727fs)	rs2145394955
NM_000271.5(NPC1):c.2978dup (p.Asp994fs)	rs775915490
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)	rs28942107
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)	rs778878523
NM_000271.5(NPC1):c.3742_3745del (p.Leu1248fs)	rs774943545
NM_006432.5(NPC2):c.202A>T (p.Lys68Ter)
NM_006432.5(NPC2):c.83-2A>T
NM_006432.5(NPC2):c.87_91delinsCACAGAACCTGCAAATCCACAATGGAGTTATAAAGGAAGTTATAAATCCACA (p.Val30fs)

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