List of variants reported as likely pathogenic for Niemann-Pick disease, type A by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)	rs727504166	0.00004
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)	rs763566905	0.00001
NM_000543.5(SMPD1):c.1264-1G>T	rs1057516454
NM_000543.5(SMPD1):c.318+2T>C	rs1225462507

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