ClinVar Miner

List of variants reported as uncertain significance for Niemann-Pick disease type A by Counsyl

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00063
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000543.5(SMPD1):c.1771C>T (p.Arg591Cys) rs375570126 0.00006
NM_000543.5(SMPD1):c.1166G>A (p.Arg389His) rs750345585 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.940G>A (p.Val314Met) rs1228068212 0.00003
NM_000543.5(SMPD1):c.1299T>G (p.Cys433Trp) rs398123475 0.00001
NM_000543.5(SMPD1):c.1361C>T (p.Ala454Val) rs1402734026 0.00001
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser) rs1554935371 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 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.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.118G>C (p.Ala40Pro) rs1299899778
NM_000543.5(SMPD1):c.126_149del (p.Leu43_Ser50del) rs1554933847
NM_000543.5(SMPD1):c.1286C>T (p.Pro429Leu) rs281860669
NM_000543.5(SMPD1):c.130_147dup (p.38_39AL[9]) rs1554933850
NM_000543.5(SMPD1):c.145_150del (p.Leu49_Ser50del) rs1382534368
NM_000543.5(SMPD1):c.1486+6_1486+9del rs1389809925
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.1675G>C (p.Val559Leu) rs149939736
NM_000543.5(SMPD1):c.1793A>G (p.Gln598Arg) rs1554935731
NM_000543.5(SMPD1):c.1795C>T (p.Leu599Phe) rs138531908
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.894_902del (p.Thr300_Thr302del) rs1554934457
NM_000543.5(SMPD1):c.895ACC[3] (p.Thr300dup) rs1554934463
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797

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