ClinVar Miner

List of variants reported as uncertain significance for leukopenia by Revvity Omics, Revvity

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_000081.4(LYST):c.10235G>A (p.Arg3412His) rs148409403 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val) rs142983846 0.00054
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile) rs147221131 0.00052
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile) rs2753327 0.00052
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys) rs150636017 0.00049
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg) rs140934482 0.00047
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln) rs138936105 0.00046
NM_000081.4(LYST):c.143A>G (p.His48Arg) rs200132460 0.00046
NM_000081.4(LYST):c.692A>G (p.Gln231Arg) rs147433918 0.00043
NM_000081.4(LYST):c.6682G>C (p.Asp2228His) rs150270086 0.00042
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup) rs781468690 0.00035
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg) rs147899661 0.00032
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln) rs150953050 0.00029
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala) rs755031266 0.00029
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00028
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys) rs117609949 0.00025
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp) rs140944484 0.00022
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000081.4(LYST):c.997C>T (p.His333Tyr) rs140821981 0.00021
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=) rs745668942 0.00018
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn) rs148371004 0.00014
NM_000081.4(LYST):c.2438G>A (p.Arg813Gln) rs558162561 0.00013
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00013
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln) rs148299757 0.00011
NM_000081.4(LYST):c.2826A>G (p.Pro942=) rs149558986 0.00010
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp) rs200276917 0.00010
NM_000081.4(LYST):c.6332C>A (p.Thr2111Asn) rs138179493 0.00009
NM_000081.4(LYST):c.949G>A (p.Glu317Lys) rs201337542 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln) rs141566041 0.00008
NM_000081.4(LYST):c.3931A>G (p.Met1311Val) rs376718077 0.00007
NM_000081.4(LYST):c.476G>A (p.Arg159Lys) rs111806240 0.00007
NM_000081.4(LYST):c.4983G>A (p.Leu1661=) rs1482156206 0.00006
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala) rs147448147 0.00006
NM_000081.4(LYST):c.1290G>A (p.Met430Ile) rs779163460 0.00004
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His) rs763703607 0.00004
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly) rs373678127 0.00004
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile) rs776033238 0.00003
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr) rs186152859 0.00003
NM_000081.4(LYST):c.85G>A (p.Ala29Thr) rs755173231 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_000081.4(LYST):c.10286T>G (p.Ile3429Ser) rs760815034 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_000081.4(LYST):c.11116T>A (p.Cys3706Ser) rs1481260242 0.00001
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr) rs376496670 0.00001
NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp) rs761351181 0.00001
NM_014017.4(LAMTOR2):c.47C>T (p.Thr16Ile) rs763874836 0.00001
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys) rs750695182 0.00001
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val) rs930006569 0.00001
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg) rs1053258649 0.00001
NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)
NM_000081.4(LYST):c.10373C>A (p.Pro3458Gln)
NM_000081.4(LYST):c.10586C>T (p.Thr3529Met)
NM_000081.4(LYST):c.10630A>G (p.Asn3544Asp)
NM_000081.4(LYST):c.10669G>T (p.Val3557Leu)
NM_000081.4(LYST):c.10700A>G (p.Gln3567Arg)
NM_000081.4(LYST):c.10916C>T (p.Thr3639Ile)
NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
NM_000081.4(LYST):c.10G>A (p.Asp4Asn)
NM_000081.4(LYST):c.11368A>G (p.Met3790Val)
NM_000081.4(LYST):c.1412C>T (p.Ala471Val)
NM_000081.4(LYST):c.149G>A (p.Arg50Gln)
NM_000081.4(LYST):c.1536T>A (p.His512Gln)
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
NM_000081.4(LYST):c.1625A>G (p.Tyr542Cys)
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
NM_000081.4(LYST):c.1739T>C (p.Ile580Thr)
NM_000081.4(LYST):c.1746A>G (p.Ile582Met)
NM_000081.4(LYST):c.1880A>C (p.Glu627Ala)
NM_000081.4(LYST):c.1888C>G (p.Pro630Ala)
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
NM_000081.4(LYST):c.2147G>A (p.Cys716Tyr)
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
NM_000081.4(LYST):c.2443C>T (p.His815Tyr)
NM_000081.4(LYST):c.2455G>A (p.Ala819Thr)
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
NM_000081.4(LYST):c.2539_2541del (p.Lys847del)
NM_000081.4(LYST):c.253A>G (p.Lys85Glu)
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
NM_000081.4(LYST):c.2642C>T (p.Ala881Val)
NM_000081.4(LYST):c.2656C>T (p.Arg886Trp)
NM_000081.4(LYST):c.2657G>A (p.Arg886Gln)
NM_000081.4(LYST):c.2677G>A (p.Val893Ile)
NM_000081.4(LYST):c.2745delinsGGCC (p.Ser915_Asp916insAla)
NM_000081.4(LYST):c.285T>C (p.Asp95=)
NM_000081.4(LYST):c.285T>G (p.Asp95Glu) rs747965676
NM_000081.4(LYST):c.310A>G (p.Ile104Val)
NM_000081.4(LYST):c.3142A>G (p.Ile1048Val)
NM_000081.4(LYST):c.3205C>T (p.His1069Tyr)
NM_000081.4(LYST):c.3266A>G (p.Lys1089Arg)
NM_000081.4(LYST):c.345A>G (p.Gln115=)
NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg)
NM_000081.4(LYST):c.3627T>G (p.Cys1209Trp)
NM_000081.4(LYST):c.3647T>C (p.Val1216Ala)
NM_000081.4(LYST):c.3650AAG[2] (p.Glu1219del) rs770679237
NM_000081.4(LYST):c.3989A>G (p.Asp1330Gly)
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
NM_000081.4(LYST):c.4040C>T (p.Ser1347Phe)
NM_000081.4(LYST):c.4071G>C (p.Glu1357Asp)
NM_000081.4(LYST):c.4108C>G (p.Pro1370Ala)
NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr)
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
NM_000081.4(LYST):c.4544-3T>C
NM_000081.4(LYST):c.5153G>A (p.Arg1718Gln)
NM_000081.4(LYST):c.5323T>C (p.Phe1775Leu)
NM_000081.4(LYST):c.5349C>G (p.Ile1783Met)
NM_000081.4(LYST):c.53G>A (p.Arg18Gln)
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
NM_000081.4(LYST):c.5608T>C (p.Cys1870Arg)
NM_000081.4(LYST):c.5636C>T (p.Thr1879Ile)
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
NM_000081.4(LYST):c.5704G>A (p.Val1902Ile)
NM_000081.4(LYST):c.6065C>T (p.Pro2022Leu)
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
NM_000081.4(LYST):c.6158T>C (p.Met2053Thr)
NM_000081.4(LYST):c.6189G>T (p.Arg2063Ser)
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
NM_000081.4(LYST):c.6475G>T (p.Gly2159Cys)
NM_000081.4(LYST):c.6548C>G (p.Ala2183Gly)
NM_000081.4(LYST):c.655A>G (p.Met219Val)
NM_000081.4(LYST):c.656T>C (p.Met219Thr)
NM_000081.4(LYST):c.6668G>T (p.Cys2223Phe)
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
NM_000081.4(LYST):c.6856T>G (p.Tyr2286Asp)
NM_000081.4(LYST):c.6866C>G (p.Thr2289Ser)
NM_000081.4(LYST):c.737T>C (p.Val246Ala)
NM_000081.4(LYST):c.7439C>A (p.Ala2480Asp)
NM_000081.4(LYST):c.7619G>A (p.Arg2540Lys)
NM_000081.4(LYST):c.7636G>A (p.Val2546Ile)
NM_000081.4(LYST):c.7974A>C (p.Glu2658Asp)
NM_000081.4(LYST):c.8447T>A (p.Leu2816Gln)
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
NM_000081.4(LYST):c.9233G>A (p.Arg3078His)
NM_000081.4(LYST):c.9338A>G (p.Asn3113Ser)
NM_000081.4(LYST):c.9647G>A (p.Arg3216His)
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
NM_000081.4(LYST):c.9776C>T (p.Ala3259Val)
NM_000081.4(LYST):c.9920G>T (p.Arg3307Leu)
NM_000081.4(LYST):c.9938G>A (p.Gly3313Asp)
NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs)
NM_000081.4(LYST):c.9944G>A (p.Arg3315His)
NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr)
NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)
NM_138387.4(G6PC3):c.218+486A>G
NM_152564.5(VPS13B):c.10059C>G (p.Asn3353Lys)
NM_152564.5(VPS13B):c.1056T>G (p.Phe352Leu)
NM_152564.5(VPS13B):c.11392+771C>A
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.1891C>A (p.Leu631Ile)
NM_152564.5(VPS13B):c.2013+3A>G
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val)
NM_152564.5(VPS13B):c.2516-3T>A rs377723973
NM_152564.5(VPS13B):c.3178G>A (p.Val1060Ile)
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu)
NM_152564.5(VPS13B):c.3938G>A (p.Ser1313Asn)
NM_152564.5(VPS13B):c.4746-3794A>C
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.259G>A (p.Ala87Thr)
NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)

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