List of variants in gene LIPA reported as uncertain significance for not provided

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: 48

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)	rs147426329	0.00061
NM_000235.4(LIPA):c.112-9T>C	rs200186130	0.00046
NM_000235.4(LIPA):c.891C>T (p.Ser297=)	rs145066614	0.00039
NM_000235.4(LIPA):c.1046A>G (p.Asp349Gly)	rs149459699	0.00027
NM_000235.4(LIPA):c.396C>G (p.Leu132=)	rs201603238	0.00024
NM_000235.4(LIPA):c.966+3A>T	rs201242614	0.00015
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)	rs145163592	0.00014
NM_000235.4(LIPA):c.676-23T>C	rs140488274	0.00011
NM_000235.4(LIPA):c.380G>A (p.Arg127Gln)	rs544080483	0.00009
NM_000235.4(LIPA):c.483T>C (p.Asn161=)	rs369755163	0.00008
NM_000235.4(LIPA):c.539-3C>T	rs376809019	0.00006
NM_000235.4(LIPA):c.618C>A (p.Val206=)	rs763651849	0.00006
NM_000235.4(LIPA):c.342C>T (p.Asp114=)	rs371133960	0.00005
NM_000235.4(LIPA):c.714G>A (p.Ala238=)	rs139282720	0.00004
NM_000235.4(LIPA):c.807G>C (p.Glu269Asp)	rs746973509	0.00004
NM_000235.4(LIPA):c.232C>A (p.Pro78Thr)	rs903291078	0.00003
NM_000235.4(LIPA):c.42C>T (p.Leu14=)	rs1314994550	0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=)	rs534838107	0.00003
NM_000235.4(LIPA):c.1077G>A (p.Gln359=)	rs538507117	0.00002
NM_000235.4(LIPA):c.888G>C (p.Trp296Cys)	rs1301990662	0.00002
NM_000235.4(LIPA):c.1056C>T (p.Asp352=)	rs1564748504	0.00001
NM_000235.4(LIPA):c.1128C>T (p.Asp376=)	rs200420117	0.00001
NM_000235.4(LIPA):c.11G>A (p.Arg4Gln)	rs762796693	0.00001
NM_000235.4(LIPA):c.227A>G (p.Lys76Arg)	rs1160249991	0.00001
NM_000235.4(LIPA):c.279T>C (p.Ser93=)	rs1011619050	0.00001
NM_000235.4(LIPA):c.28G>A (p.Val10Ile)	rs372942127	0.00001
NM_000235.4(LIPA):c.294C>G (p.Asn98Lys)	rs767688436	0.00001
NM_000235.4(LIPA):c.428+3A>G	rs369626938	0.00001
NM_000235.4(LIPA):c.43T>C (p.Trp15Arg)	rs758797771	0.00001
NM_000235.4(LIPA):c.449A>G (p.Tyr150Cys)	rs751257648	0.00001
NM_000235.4(LIPA):c.6A>T (p.Lys2Asn)	rs138408240	0.00001
NM_000235.4(LIPA):c.870G>A (p.Val290=)	rs756950169	0.00001
NM_000235.4(LIPA):c.1005G>A (p.Val335=)	rs1564748606
NM_000235.4(LIPA):c.1032C>G (p.His344Gln)	rs779601441
NM_000235.4(LIPA):c.166G>A (p.Glu56Lys)	rs1564764219
NM_000235.4(LIPA):c.372C>T (p.Thr124=)	rs532740212
NM_000235.4(LIPA):c.429-10T>G	rs1554865817
NM_000235.4(LIPA):c.52C>T (p.His18Tyr)
NM_000235.4(LIPA):c.539-5C>A	rs2297472
NM_000235.4(LIPA):c.615C>G (p.Ser205=)	rs143930279
NM_000235.4(LIPA):c.615C>T (p.Ser205=)	rs143930279
NM_000235.4(LIPA):c.618C>T (p.Val206=)	rs763651849
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)	rs2228159
NM_000235.4(LIPA):c.749A>C (p.His250Pro)	rs747792993
NM_000235.4(LIPA):c.821T>A (p.Met274Lys)	rs2133426927
NM_000235.4(LIPA):c.822G>C (p.Met274Ile)	rs924552338
NM_000235.4(LIPA):c.885C>T (p.His295=)	rs886044197
NM_000235.4(LIPA):c.955C>T (p.His319Tyr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.