ClinVar Miner

List of variants in gene combination ACD, LOC130059224 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP gnomAD frequency
NC_000016.10:g.67660342del rs753666055 0.00004
NC_000016.10:g.67660363C>T rs199612237 0.00004
NC_000016.10:g.67660399C>T rs778255016 0.00004
NC_000016.10:g.67660436C>T rs752006255 0.00002
NC_000016.10:g.67660348C>A rs756883228 0.00001
NC_000016.10:g.67660354G>T rs1396620065 0.00001
NC_000016.10:g.67660357T>G rs755584473 0.00001
NC_000016.10:g.67660372C>T rs527307806 0.00001
NC_000016.10:g.67660382G>A rs776842448 0.00001
NC_000016.10:g.67660388T>C rs949049586 0.00001
NC_000016.10:g.67660402C>G rs781229512 0.00001
NC_000016.10:g.67660412C>G rs760222002 0.00001
NC_000016.10:g.67660322_67660356del rs2142976594
NC_000016.10:g.67660330A>C
NC_000016.10:g.67660332_67660346dup rs2142976632
NC_000016.10:g.67660346C>A
NC_000016.10:g.67660346C>T
NC_000016.10:g.67660351C>T rs767099534
NC_000016.10:g.67660354G>A
NC_000016.10:g.67660358G>A rs1347436636
NC_000016.10:g.67660358G>T
NC_000016.10:g.67660360G>T
NC_000016.10:g.67660361C>T
NC_000016.10:g.67660364G>A
NC_000016.10:g.67660370G>A rs748543340
NC_000016.10:g.67660370G>T
NC_000016.10:g.67660373C>T rs1452825225
NC_000016.10:g.67660376C>T rs772377460
NC_000016.10:g.67660378C>A
NC_000016.10:g.67660378C>G
NC_000016.10:g.67660379G>C
NC_000016.10:g.67660381G>T
NC_000016.10:g.67660384C>A
NC_000016.10:g.67660384C>T rs774085628
NC_000016.10:g.67660385C>A rs761628896
NC_000016.10:g.67660385C>G rs761628896
NC_000016.10:g.67660391G>A rs376813282
NC_000016.10:g.67660393A>T
NC_000016.10:g.67660400C>G rs2052987449
NC_000016.10:g.67660401G>T
NC_000016.10:g.67660405G>C rs1237579301
NC_000016.10:g.67660407C>T rs745972649
NC_000016.10:g.67660407_67660419dup rs757084527
NC_000016.10:g.67660408C>T
NC_000016.10:g.67660414G>A
NC_000016.10:g.67660415C>G
NC_000016.10:g.67660417G>A
NC_000016.10:g.67660423C>T
NC_000016.10:g.67660426G>A
NM_001082486.1(ACD):c.119C>T (p.Ala40Val) rs374417270
NM_001082486.1(ACD):c.58G>A (p.Ala20Thr) rs372927331
NM_001082486.1(ACD):c.71_72invGG (p.Trp24Ser)
NM_022914.2(ACD):c.139delG (p.Arg48Glyfs) rs764120026
NM_022914.2(ACD):c.60_72delACCAGCGGGGTGG (p.Trp24Valfs) rs757084527
NM_022914.2(ACD):c.64_125dup (p.Val45Glyfs)
NM_022914.2(ACD):c.96dup (p.Arg34Profs)

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