ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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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.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu) rs1057517195 0.00004
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479 0.00002
NM_000543.5(SMPD1):c.1001T>C (p.Ile334Thr) rs759950370 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 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.1361C>A (p.Ala454Asp) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 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.491G>T (p.Gly164Val) rs1047531932 0.00001
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter) rs1554934212 0.00001
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro) rs764317969 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000543.5(SMPD1):c.1026G>C (p.Trp342Cys) rs281860668
NM_000543.5(SMPD1):c.1076C>T (p.Ala359Val) rs797044800
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.1105T>C (p.Tyr369His) rs1848014133
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
NM_000543.5(SMPD1):c.1132C>T (p.Arg378Cys) rs369088417
NM_000543.5(SMPD1):c.1144C>G (p.Leu382Val)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1152del (p.Met384fs)
NM_000543.5(SMPD1):c.1154A>G (p.Asn385Ser) rs120074123
NM_000543.5(SMPD1):c.1154A>T (p.Asn385Ile)
NM_000543.5(SMPD1):c.1167T>G (p.Arg389=) rs1162794351
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.1279C>A (p.His427Asn) rs760930408
NM_000543.5(SMPD1):c.1279C>T (p.His427Tyr)
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>G (p.Pro430Ala)
NM_000543.5(SMPD1):c.1288C>T (p.Pro430Ser) rs140688153
NM_000543.5(SMPD1):c.1289C>T (p.Pro430Leu)
NM_000543.5(SMPD1):c.1340+2T>C
NM_000543.5(SMPD1):c.1340+2T>G rs1301641750
NM_000543.5(SMPD1):c.1340+2_1340+9del
NM_000543.5(SMPD1):c.1340G>A (p.Arg447Lys) rs2134019797
NM_000543.5(SMPD1):c.1341-21_1341-18del
NM_000543.5(SMPD1):c.1358C>A (p.Ala453Asp)
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.1451C>A (p.Ala484Glu) rs267607075
NM_000543.5(SMPD1):c.1457G>A (p.Ser486Asn) rs2134021618
NM_000543.5(SMPD1):c.1458T>G (p.Ser486Arg) rs281860665
NM_000543.5(SMPD1):c.1486+5G>C
NM_000543.5(SMPD1):c.1489T>C (p.Tyr497His) rs1848079553
NM_000543.5(SMPD1):c.1492C>A (p.Arg498Ser)
NM_000543.5(SMPD1):c.1493G>A (p.Arg498His) rs120074117
NM_000543.5(SMPD1):c.1493G>C (p.Arg498Pro) rs120074117
NM_000543.5(SMPD1):c.1508A>T (p.Asp503Val)
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)
NM_000543.5(SMPD1):c.1547A>T (p.His516Leu)
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.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.168_169del (p.Trp56fs)
NM_000543.5(SMPD1):c.1736G>A (p.Gly579Asp)
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.1828C>T (p.Arg610Cys)
NM_000543.5(SMPD1):c.1829G>A (p.Arg610His)
NM_000543.5(SMPD1):c.290T>C (p.Leu97Pro) rs1847878243
NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)
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
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000543.5(SMPD1):c.448_449insTAGGAAGCCGTAAA (p.Arg150fs)
NM_000543.5(SMPD1):c.450_453delinsTCTCCTTT (p.Ser151fs)
NM_000543.5(SMPD1):c.451_452del (p.Val152fs)
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.476G>A (p.Cys159Tyr)
NM_000543.5(SMPD1):c.610C>A (p.Leu204Ile)
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)
NM_000543.5(SMPD1):c.633G>C (p.Trp211Cys)
NM_000543.5(SMPD1):c.634G>C (p.Asp212His) rs772889728
NM_000543.5(SMPD1):c.647del (p.Leu216fs)
NM_000543.5(SMPD1):c.667T>G (p.Cys223Gly) rs1847923379
NM_000543.5(SMPD1):c.688C>A (p.Arg230Ser)
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.722del (p.Pro241fs)
NM_000543.5(SMPD1):c.725G>A (p.Gly242Asp) rs1057435197
NM_000543.5(SMPD1):c.731G>A (p.Gly244Glu)
NM_000543.5(SMPD1):c.731G>C (p.Gly244Ala) rs2134011288
NM_000543.5(SMPD1):c.749G>A (p.Ser250Asn)
NM_000543.5(SMPD1):c.754T>C (p.Cys252Arg) rs1847929817
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs) rs794727252
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.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)
NM_000543.5(SMPD1):c.955G>A (p.Gly319Ser) rs757934797
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.961C>T (p.His321Tyr) rs2134012749
NM_000543.5(SMPD1):c.973C>T (p.Pro325Ser)
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
NM_000543.5(SMPD1):c.994C>T (p.Pro332Ser)
NM_000543.5(SMPD1):c.995C>A (p.Pro332His)
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954

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