Variants in gene NPC2 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 8

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HGVS	dbSNP	gnomAD frequency
NM_006432.5(NPC2):c.190+5G>A	rs80358268	0.00002
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)	rs1376058648	0.00001
NM_006432.5(NPC2):c.358C>T (p.Pro120Ser)	rs104894458	0.00001
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)	rs80358262
NM_006432.5(NPC2):c.210_213dup (p.Ala72fs)	rs2086689501
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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