ClinVar Miner

List of variants reported as likely benign for Niemann-Pick disease by Natera, Inc.

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile) rs142178073 0.00371
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_000271.5(NPC1):c.3477+4A>G rs114073738 0.00292
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met) rs13381670 0.00283
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108 0.00241
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met) rs140806787 0.00192
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256 0.00150
NM_000543.5(SMPD1):c.1340+7C>T rs116480929 0.00144
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609 0.00104
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00103
NM_000543.5(SMPD1):c.1091+9C>T rs143612450 0.00103
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115 0.00062
NM_006432.5(NPC2):c.273T>C (p.Asp91=) rs151071820 0.00031
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962 0.00016
NM_000271.5(NPC1):c.2088T>C (p.Ala696=) rs377179697 0.00015
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr) rs373435883 0.00015
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00011
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.534C>T (p.Ile178=) rs142147633 0.00011
NM_000543.5(SMPD1):c.909A>G (p.Ala303=) rs201134693 0.00011
NM_000271.5(NPC1):c.2775C>T (p.Asn925=) rs147419225 0.00009
NM_000543.5(SMPD1):c.1839G>A (p.Met613Ile) rs370828368 0.00008
NM_000271.5(NPC1):c.1479C>T (p.Ser493=) rs148078801 0.00006
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=) rs201659696 0.00006
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=) rs774989668 0.00005
NM_000543.5(SMPD1):c.618C>T (p.Leu206=) rs776180872 0.00005
NM_000271.5(NPC1):c.123T>C (p.Asn41=) rs777848348 0.00004
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=) rs552841217 0.00004
NM_000271.5(NPC1):c.1869C>T (p.Thr623=) rs1359876392 0.00003
NM_000543.5(SMPD1):c.1431G>A (p.Pro477=) rs138588535 0.00003
NM_000543.5(SMPD1):c.558G>A (p.Pro186=) rs1464825418 0.00003
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000271.5(NPC1):c.1356C>T (p.Asn452=) rs758508630 0.00001
NM_000271.5(NPC1):c.2055T>C (p.Ile685=) rs199856145 0.00001
NM_000271.5(NPC1):c.2508A>G (p.Pro836=) rs1468600723 0.00001
NM_000271.5(NPC1):c.783G>A (p.Thr261=) rs770731602 0.00001
NM_000543.5(SMPD1):c.126G>A (p.Ala42=) rs571806745 0.00001
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=) rs554647710 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 0.00001
NM_000543.5(SMPD1):c.390T>G (p.Pro130=) rs371141815 0.00001
NM_000271.5(NPC1):c.1318C>T (p.Leu440=) rs1390796169
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG rs1555634618
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG rs772150994
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla) rs775568984
NM_000543.5(SMPD1):c.348C>T (p.Ser116=) rs767122852
NM_000543.5(SMPD1):c.567A>G (p.Lys189=) rs750187574

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