ClinVar Miner

List of variants in gene SMPD1 reported as likely pathogenic for Niemann-Pick disease, type B; Niemann-Pick disease, type A

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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00064
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00007
NM_000543.5(SMPD1):c.551C>T (p.Pro184Leu) rs760203204 0.00006
NM_000543.5(SMPD1):c.1828C>T (p.Arg610Cys) rs375915127 0.00005
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His) rs140269316 0.00003
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter) rs201550531 0.00002
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr) rs759950370 0.00001
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg) rs767492080 0.00001
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr) rs760930408 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1288C>G (p.Pro430Ala) rs140688153 0.00001
NM_000543.5(SMPD1):c.1297T>C (p.Cys433Arg) rs779528546 0.00001
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854 0.00001
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys) rs747143343 0.00001
NM_000543.5(SMPD1):c.1361C>A (p.Ala454Asp) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.1801G>A (p.Ala601Thr) rs750433951 0.00001
NM_000543.5(SMPD1):c.1804C>T (p.Arg602Cys) rs763099671 0.00001
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827 0.00001
NM_000543.5(SMPD1):c.319-1G>A rs1352986086 0.00001
NM_000543.5(SMPD1):c.476G>A (p.Cys159Tyr) rs2493804273 0.00001
NM_000543.5(SMPD1):c.491G>T (p.Gly164Val) rs1047531932 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000543.5(SMPD1):c.1054_1072dup (p.Glu358fs)
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val) rs797044800
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs) rs1590735307
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.1090A>G (p.Arg364Gly) rs1242180535
NM_000543.5(SMPD1):c.1091+1G>A rs1847955457
NM_000543.5(SMPD1):c.1092-2A>T
NM_000543.5(SMPD1):c.1105T>C (p.Tyr369His) rs1848014133
NM_000543.5(SMPD1):c.1108dup (p.Ala370fs) rs1590743683
NM_000543.5(SMPD1):c.1118del (p.Pro373fs) rs2493813577
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser) rs369088417
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys) rs369088417
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val) rs281860666
NM_000543.5(SMPD1):c.1152del (p.Met384fs) rs2493813892
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile) rs120074123
NM_000543.5(SMPD1):c.1233G>C (p.Glu411Asp) rs34555120
NM_000543.5(SMPD1):c.1263+1G>A rs2134018090
NM_000543.5(SMPD1):c.1264-1G>A rs1057516454
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1264-2A>G rs774309925
NM_000543.5(SMPD1):c.1264-2A>T
NM_000543.5(SMPD1):c.1276G>A (p.Gly426Ser) rs1554935136
NM_000543.5(SMPD1):c.1279C>A (p.His427Asn) rs760930408
NM_000543.5(SMPD1):c.1280A>T (p.His427Leu) rs794727629
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser) rs140688153
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu) rs766945871
NM_000543.5(SMPD1):c.1340+1G>A
NM_000543.5(SMPD1):c.1340+2T>C rs1301641750
NM_000543.5(SMPD1):c.1340+2T>G rs1301641750
NM_000543.5(SMPD1):c.1340+2_1340+9del rs2493817489
NM_000543.5(SMPD1):c.1341-21_1341-18del rs1312743513
NM_000543.5(SMPD1):c.1355del (p.Leu452fs)
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp) rs2493819793
NM_000543.5(SMPD1):c.1363C>T (p.Gln455Ter) rs2134021058
NM_000543.5(SMPD1):c.1375C>T (p.His459Tyr) rs1848060631
NM_000543.5(SMPD1):c.1376A>G (p.His459Arg) rs1848060729
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1393T>C (p.Phe465Leu) rs1258231226
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu) rs1848061944
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys) rs267607074
NM_000543.5(SMPD1):c.1426C>G (p.Arg476Gly) rs182812968
NM_000543.5(SMPD1):c.1430C>A (p.Pro477Gln) rs753508874
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn) rs2134021618
NM_000543.5(SMPD1):c.1486+5G>C rs1446986999
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His) rs1848079553
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser) rs769904764
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro) rs120074117
NM_000543.5(SMPD1):c.1497_1498del (p.Tyr500fs) rs1057517200
NM_000543.5(SMPD1):c.1518C>A (p.Tyr506Ter) rs943924098
NM_000543.5(SMPD1):c.1526G>C (p.Ser509Thr) rs764772735
NM_000543.5(SMPD1):c.1546C>T (p.His516Tyr) rs947385324
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu) rs754979734
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1553C>T (p.Thr518Ile) rs752679988
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1598C>A (p.Pro533Gln) rs199915216
NM_000543.5(SMPD1):c.1616A>G (p.Tyr539Cys)
NM_000543.5(SMPD1):c.1673T>C (p.Leu558Pro) rs875989836
NM_000543.5(SMPD1):c.167G>A (p.Trp56Ter) rs2134006149
NM_000543.5(SMPD1):c.168_169del (p.Trp56fs) rs2493800139
NM_000543.5(SMPD1):c.1706dup (p.Gln570fs)
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.1730A>T (p.His577Leu)
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp) rs2493823558
NM_000543.5(SMPD1):c.1736G>T (p.Gly579Val)
NM_000543.5(SMPD1):c.1771del (p.Arg591fs) rs2493823785
NM_000543.5(SMPD1):c.1783C>G (p.Leu595Val) rs2134024349
NM_000543.5(SMPD1):c.1786T>C (p.Cys596Arg) rs1848099174
NM_000543.5(SMPD1):c.1804del (p.Arg602fs) rs1848099900
NM_000543.5(SMPD1):c.1805G>C (p.Arg602Pro)
NM_000543.5(SMPD1):c.1864_1877dup (p.Pro628fs)
NM_000543.5(SMPD1):c.272G>A (p.Cys91Tyr)
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro) rs1847878243
NM_000543.5(SMPD1):c.295_296del (p.Thr99fs) rs2493800895
NM_000543.5(SMPD1):c.314T>C (p.Leu105Pro) rs751269562
NM_000543.5(SMPD1):c.318+2T>C rs1225462507
NM_000543.5(SMPD1):c.319-2A>G rs779080655
NM_000543.5(SMPD1):c.448_449insTAGGAAGCCGTAAA (p.Arg150fs) rs2493804143
NM_000543.5(SMPD1):c.450_453delinsTCTCCTTT (p.Ser151fs) rs2493804168
NM_000543.5(SMPD1):c.451_452del (p.Val152fs) rs2493804165
NM_000543.5(SMPD1):c.464C>G (p.Pro155Arg) rs1369175943
NM_000543.5(SMPD1):c.469G>A (p.Glu157Lys) rs2134009384
NM_000543.5(SMPD1):c.527G>A (p.Trp176Ter)
NM_000543.5(SMPD1):c.593C>A (p.Ala198Asp)
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile) rs1690892137
NM_000543.5(SMPD1):c.611T>A (p.Leu204His) rs2134010621
NM_000543.5(SMPD1):c.620C>A (p.Thr207Asn) rs1847921260
NM_000543.5(SMPD1):c.631T>C (p.Trp211Arg) rs2493805405
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys) rs2493805420
NM_000543.5(SMPD1):c.634G>C (p.Asp212His) rs772889728
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly) rs1847923379
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser) rs989639224
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.722del (p.Pro241fs) rs2493806137
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu) rs2134011288
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala) rs2134011288
NM_000543.5(SMPD1):c.737G>A (p.Trp246Ter)
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn) rs2493806373
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg) rs1847929817
NM_000543.5(SMPD1):c.759C>A (p.Asp253Glu) rs752000778
NM_000543.5(SMPD1):c.797T>C (p.Leu266Pro) rs1847932355
NM_000543.5(SMPD1):c.827A>G (p.Tyr276Cys) rs1847934777
NM_000543.5(SMPD1):c.840C>G (p.Asp280Glu) rs2134011919
NM_000543.5(SMPD1):c.846del (p.Ala283fs)
NM_000543.5(SMPD1):c.881A>G (p.Gln294Arg) rs1847939431
NM_000543.5(SMPD1):c.893T>C (p.Leu298Pro) rs1847940504
NM_000543.5(SMPD1):c.910C>G (p.Leu304Val) rs2134012389
NM_000543.5(SMPD1):c.910C>T (p.Leu304Phe) rs2134012389
NM_000543.5(SMPD1):c.941T>C (p.Val314Ala) rs1847944661
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser) rs757934797
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr) rs2134012749
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser) rs761308217
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala) rs1327201504
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser) rs1327201504
NM_000543.5(SMPD1):c.995C>A (p.Pro332His) rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954

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