ClinVar Miner

List of variants reported as uncertain significance for Gaucher disease

Included ClinVar conditions (13):
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Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_000157.4(GBA1):c.474C>T (p.Ile158=) rs147411159 0.00057
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_002778.4(PSAP):c.94T>G (p.Trp32Gly) rs200008050 0.00022
NM_000157.4(GBA1):c.535G>C (p.Asp179His) rs147138516 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000157.4(GBA1):c.168C>T (p.Val56=) rs145773486 0.00011
NM_002778.4(PSAP):c.*574G>C rs549402343 0.00010
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys) rs148519599 0.00007
NM_000157.4(GBA1):c.1495G>A (p.Val499Met) rs369068553 0.00006
NM_002778.4(PSAP):c.*1008C>T rs537171961 0.00006
NM_002778.4(PSAP):c.*276G>A rs547409137 0.00006
NM_002778.4(PSAP):c.695G>A (p.Arg232His) rs147265566 0.00006
NM_002778.4(PSAP):c.*596A>G rs965039324 0.00005
NM_002778.4(PSAP):c.-22G>C rs569841336 0.00005
NM_000157.4(GBA1):c.1455A>G (p.Ala485=) rs199928507 0.00004
NM_002778.4(PSAP):c.*346C>T rs951110904 0.00004
NM_000157.4(GBA1):c.1447C>T (p.Leu483=) rs369966551 0.00003
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe) rs374591570 0.00003
NM_002778.4(PSAP):c.*787C>T rs932052243 0.00003
NM_002778.4(PSAP):c.380G>A (p.Arg127His) rs886047151 0.00003
NM_002778.4(PSAP):c.798G>A (p.Ala266=) rs199672678 0.00003
NM_002778.4(PSAP):c.923C>T (p.Pro308Leu) rs886047150 0.00003
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met) rs757930613 0.00002
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys) rs1141812 0.00002
NM_000157.4(GBA1):c.941A>G (p.Asn314Ser) rs535896234 0.00002
NM_002778.4(PSAP):c.1197C>T (p.His399=) rs748761213 0.00002
NM_002778.4(PSAP):c.40+12G>A rs886047153 0.00002
NM_002778.4(PSAP):c.419C>T (p.Ser140Phe) rs1428436713 0.00002
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly) rs78396650 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn) rs1571966221 0.00001
NM_000157.4(GBA1):c.145G>A (p.Gly49Ser) rs760930573 0.00001
NM_000157.4(GBA1):c.171C>T (p.Cys57=) rs1671995080 0.00001
NM_000157.4(GBA1):c.34C>T (p.Pro12Ser) rs763770350 0.00001
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_002778.4(PSAP):c.*90C>T rs1348415797 0.00001
NM_002778.4(PSAP):c.*935A>G rs886047148 0.00001
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile) rs759178813 0.00001
NM_002778.4(PSAP):c.250-12G>A rs886047152 0.00001
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu) rs143016278 0.00001
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA1):c.1077C>A (p.Ala359=) rs1671753933
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro) rs2148083300
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr) rs1571965884
NM_000157.4(GBA1):c.1389-33del rs1671680082
NM_000157.4(GBA1):c.1474G>A (p.Asp492Asn) rs779958429
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA rs1557900564
NM_000157.4(GBA1):c.1548G>C (p.Val516=) rs1671659716
NM_000157.4(GBA1):c.1566C>T (p.Ile522=) rs1671657974
NM_000157.4(GBA1):c.167T>A (p.Val56Asp) rs878853318
NM_000157.4(GBA1):c.175G>A (p.Ala59Thr) rs1671994799
NM_000157.4(GBA1):c.431T>G (p.Leu144Arg) rs794727708
NM_000157.4(GBA1):c.455-7T>C rs1671901028
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys) rs781152868
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe) rs1671865905
NM_000157.4(GBA1):c.730T>C (p.Tyr244His) rs1671863930
NM_000157.4(GBA1):c.751T>C (p.Tyr251His) rs121908300
NM_000157.4(GBA1):c.835C>G (p.Leu279Val) rs1057519020
NM_000157.4(GBA1):c.898G>A (p.Ala300Thr) rs1671824775
NM_000157.4(GBA1):c.907C>A (p.Leu303Ile)
NM_000543.5(SMPD1):c.106_107insCGCTGG (p.Leu35_Val36insAlaLeu) rs1554933800
NM_002778.4(PSAP):c.*113C>T rs544214520
NM_002778.4(PSAP):c.*526G>A rs1842177081
NM_002778.4(PSAP):c.*73C>T rs541692197
NM_002778.4(PSAP):c.*859C>T rs886047149
NM_002778.4(PSAP):c.1329G>T (p.Leu443=) rs1842249121
NM_002778.4(PSAP):c.508C>G (p.Pro170Ala) rs761637109
NM_002778.4(PSAP):c.911A>G (p.Lys304Arg) rs757553906
NM_003640.5(ELP1):c.3195G>A (p.Ala1065=) rs758321016

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