ClinVar Miner

List of variants in gene LIPA reported as likely benign for Cardiovascular phenotype

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238 0.00024
NM_000235.4(LIPA):c.1068A>G (p.Leu356=) rs137932212 0.00013
NM_000235.4(LIPA):c.483T>C (p.Asn161=) rs369755163 0.00008
NM_000235.4(LIPA):c.654A>G (p.Arg218=) rs773232583 0.00008
NM_000235.4(LIPA):c.1023C>T (p.Ser341=) rs747984396 0.00007
NM_000235.4(LIPA):c.265C>T (p.Leu89=) rs1359982254 0.00007
NM_000235.4(LIPA):c.1119G>A (p.Glu373=) rs745997462 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.657A>G (p.Leu219=) rs748624841 0.00004
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720 0.00004
NM_000235.4(LIPA):c.76C>T (p.Leu26=) rs377437637 0.00004
NM_000235.4(LIPA):c.1110G>A (p.Pro370=) rs1381270290 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.12G>T (p.Arg4=) rs773109434 0.00002
NM_000235.4(LIPA):c.1008G>A (p.Pro336=) rs376895620 0.00001
NM_000235.4(LIPA):c.1050C>T (p.Val350=) rs1249046123 0.00001
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.1188G>A (p.Arg396=) rs750001661 0.00001
NM_000235.4(LIPA):c.135A>T (p.Gly45=) rs760789213 0.00001
NM_000235.4(LIPA):c.279T>C (p.Ser93=) rs1011619050 0.00001
NM_000235.4(LIPA):c.27G>C (p.Val9=) rs768712010 0.00001
NM_000235.4(LIPA):c.288C>T (p.Val96=) rs1842797794 0.00001
NM_000235.4(LIPA):c.63G>A (p.Gly21=) rs1218489545 0.00001
NM_000235.4(LIPA):c.669C>T (p.Leu223=) rs932100691 0.00001
NM_000235.4(LIPA):c.738C>T (p.His246=) rs1043989532 0.00001
NM_000235.4(LIPA):c.852T>G (p.Ser284=) rs778780317 0.00001
NM_000235.4(LIPA):c.870G>A (p.Val290=) rs756950169 0.00001
NM_000235.4(LIPA):c.1008G>T (p.Pro336=)
NM_000235.4(LIPA):c.1032C>G (p.His344Gln) rs779601441
NM_000235.4(LIPA):c.1032C>T (p.His344=) rs779601441
NM_000235.4(LIPA):c.1083C>T (p.Thr361=) rs753553813
NM_000235.4(LIPA):c.1152T>C (p.Pro384=)
NM_000235.4(LIPA):c.1170A>G (p.Lys390=)
NM_000235.4(LIPA):c.198T>A (p.Ile66=)
NM_000235.4(LIPA):c.204T>C (p.His68=)
NM_000235.4(LIPA):c.246C>T (p.Val82=) rs2133436821
NM_000235.4(LIPA):c.264G>A (p.Leu88=) rs755847301
NM_000235.4(LIPA):c.30C>G (p.Val10=) rs1843045493
NM_000235.4(LIPA):c.431A>T (p.Tyr144Phe)
NM_000235.4(LIPA):c.539-6_539-5delinsCT rs1589555777
NM_000235.4(LIPA):c.600G>C (p.Leu200=)
NM_000235.4(LIPA):c.60G>A (p.Glu20=)
NM_000235.4(LIPA):c.611C>T (p.Ala204Val)
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.705C>T (p.Pro235=)
NM_000235.4(LIPA):c.744C>T (p.Cys248=) rs761924047
NM_000235.4(LIPA):c.852T>C (p.Ser284=)
NM_000235.4(LIPA):c.855T>A (p.Pro285=)
NM_000235.4(LIPA):c.885C>T (p.His295=) rs886044197
NM_000235.4(LIPA):c.93T>C (p.Pro31=)

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