List of variants in gene LIPA reported as uncertain significance by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000235.4(LIPA):c.891C>T (p.Ser297=)	rs145066614	0.00039
NM_000235.4(LIPA):c.966+3A>T	rs201242614	0.00015
NM_000235.4(LIPA):c.846A>G (p.Thr282=)	rs534838107	0.00003
NM_000235.4(LIPA):c.256C>T (p.His86Tyr)	rs749180806	0.00002
NM_000235.4(LIPA):c.538+6T>C	rs772236690	0.00002
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro)	rs772684869	0.00001
NM_000235.4(LIPA):c.1A>G (p.Met1Val)	rs767039444
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)	rs1554866097
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg)	rs766364179
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)	rs2228159

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