ClinVar Miner

List of variants studied for Niemann-Pick disease by Myriad Genetics, Inc.

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259 0.00025
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu) rs120074117 0.00010
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro) rs120074124 0.00004
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000271.5(NPC1):c.1070C>A (p.Ser357Ter) rs1555637232
NM_000271.5(NPC1):c.1092T>A (p.Cys364Ter) rs2058953311
NM_000271.5(NPC1):c.1182C>A (p.Tyr394Ter)
NM_000271.5(NPC1):c.1337T>A (p.Leu446Ter) rs2058929021
NM_000271.5(NPC1):c.1348dup (p.Ile450fs)
NM_000271.5(NPC1):c.1371T>A (p.Tyr457Ter)
NM_000271.5(NPC1):c.1642G>T (p.Gly548Ter)
NM_000271.5(NPC1):c.1731_1737del (p.Gln578fs)
NM_000271.5(NPC1):c.173T>A (p.Leu58Ter)
NM_000271.5(NPC1):c.1996_1997del (p.Ser666fs)
NM_000271.5(NPC1):c.2035_2036delinsT (p.Gly679fs)
NM_000271.5(NPC1):c.2044_2045insGTCATACACATCTG (p.Leu682fs)
NM_000271.5(NPC1):c.2046_2047del (p.Leu682fs)
NM_000271.5(NPC1):c.2086del (p.Ala696fs)
NM_000271.5(NPC1):c.2092G>T (p.Gly698Ter) rs2058754064
NM_000271.5(NPC1):c.2146C>T (p.Gln716Ter)
NM_000271.5(NPC1):c.2174del (p.Gly725fs)
NM_000271.5(NPC1):c.2383_2384del (p.Leu795fs)
NM_000271.5(NPC1):c.2434del (p.Ala812fs)
NM_000271.5(NPC1):c.2575G>T (p.Gly859Ter) rs2058698654
NM_000271.5(NPC1):c.2579T>A (p.Leu860Ter) rs2058698544
NM_000271.5(NPC1):c.2670C>A (p.Tyr890Ter) rs780592540
NM_000271.5(NPC1):c.2742C>A (p.Cys914Ter) rs2058687419
NM_000271.5(NPC1):c.2871T>A (p.Cys957Ter)
NM_000271.5(NPC1):c.2901C>A (p.Cys967Ter) rs2058679233
NM_000271.5(NPC1):c.2953_2954insT (p.Glu985fs) rs2145366898
NM_000271.5(NPC1):c.29_30insGTCTCTTATACACACTG (p.Leu11fs)
NM_000271.5(NPC1):c.3017del (p.Asn1006fs)
NM_000271.5(NPC1):c.3026_3027del (p.Pro1009fs)
NM_000271.5(NPC1):c.3136C>T (p.Gln1046Ter) rs1446718670
NM_000271.5(NPC1):c.3141_3147delinsAG (p.Ser1048fs)
NM_000271.5(NPC1):c.315_317delinsT (p.Asn106fs)
NM_000271.5(NPC1):c.3182_3183del (p.Ile1061fs)
NM_000271.5(NPC1):c.3255T>A (p.Tyr1085Ter) rs774602107
NM_000271.5(NPC1):c.3273C>G (p.Tyr1091Ter) rs1598937493
NM_000271.5(NPC1):c.3276_3277del (p.Thr1093fs)
NM_000271.5(NPC1):c.327T>A (p.Cys109Ter) rs2059164764
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3359_3360insAC (p.Leu1121fs)
NM_000271.5(NPC1):c.339T>A (p.Cys113Ter) rs2059164609
NM_000271.5(NPC1):c.3553G>T (p.Glu1185Ter)
NM_000271.5(NPC1):c.378del (p.Glu127fs)
NM_000271.5(NPC1):c.473dup (p.Asn158fs)
NM_000271.5(NPC1):c.586A>T (p.Lys196Ter) rs754653682
NM_000271.5(NPC1):c.608_609del (p.Phe203fs)
NM_000271.5(NPC1):c.681T>A (p.Cys227Ter) rs2059021939
NM_000271.5(NPC1):c.718_719del (p.Cys240fs)
NM_000271.5(NPC1):c.747del (p.Lys250fs)
NM_000271.5(NPC1):c.75T>A (p.Cys25Ter)
NM_000271.5(NPC1):c.872G>A (p.Trp291Ter) rs2059018297
NM_000271.5(NPC1):c.88G>T (p.Glu30Ter) rs2059233326
NM_000271.5(NPC1):c.901G>T (p.Glu301Ter) rs150154006
NM_000271.5(NPC1):c.906C>A (p.Tyr302Ter)
NM_000271.5(NPC1):c.943del (p.Ala315fs)
NM_000543.5(SMPD1):c.1118del (p.Pro373fs)
NM_000543.5(SMPD1):c.1152del (p.Met384fs)
NM_000543.5(SMPD1):c.168_169del (p.Trp56fs)
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del) rs120074118
NM_000543.5(SMPD1):c.295_296del (p.Thr99fs)
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.722del (p.Pro241fs)
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.996del (p.Phe333fs) rs387906289
NM_006432.5(NPC2):c.142C>T (p.Gln48Ter) rs2086712538
NM_006432.5(NPC2):c.148_149del (p.Ser50fs)
NM_006432.5(NPC2):c.154G>T (p.Gly52Ter)
NM_006432.5(NPC2):c.184_185del (p.Thr62fs)
NM_006432.5(NPC2):c.218del (p.Val73fs)
NM_006432.5(NPC2):c.249_250insAATTCCA (p.Pro84fs)
NM_006432.5(NPC2):c.297C>A (p.Cys99Ter) rs2086687936
NM_006432.5(NPC2):c.304C>T (p.Gln102Ter) rs2086687862
NM_006432.5(NPC2):c.334A>T (p.Lys112Ter) rs2086687425
NM_006432.5(NPC2):c.336_339delinsCTT (p.Lys112fs)
NM_006432.5(NPC2):c.357T>A (p.Tyr119Ter) rs2086687086
NM_006432.5(NPC2):c.64_65delinsCTCACC (p.Val22fs)
NM_006432.5(NPC2):c.91del (p.Asp31fs)

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