ClinVar Miner

List of variants reported as likely pathogenic for chromosomal disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (211):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_000057.4(BLM):c.3558+1G>T rs148969222 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_000057.4(BLM):c.3210+2del rs587779886 0.00003
NM_000057.4(BLM):c.98+1G>C rs750293380 0.00003
NM_001211.6(BUB1B):c.2386-11A>G rs751421137 0.00003
NM_000057.4(BLM):c.1054G>T (p.Glu352Ter) rs369583279 0.00001
NM_000057.4(BLM):c.2075-1G>A rs1231598990 0.00001
NM_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_000057.4(BLM):c.1041_1042del (p.Lys347fs)
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1154del (p.Thr385fs)
NM_000057.4(BLM):c.1173_1180dup (p.Leu394Ter) rs1596228957
NM_000057.4(BLM):c.1399dup (p.Asp467fs) rs1555419862
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1542_1543insT (p.Asn515Ter)
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
NM_000057.4(BLM):c.1671del (p.Asp557fs)
NM_000057.4(BLM):c.1764_1777del (p.Lys588fs) rs1057516956
NM_000057.4(BLM):c.1882+2T>C
NM_000057.4(BLM):c.213_214del (p.Ser72fs) rs960430492
NM_000057.4(BLM):c.2193+1_2193+9del rs1060500652
NM_000057.4(BLM):c.2343_2344dup (p.Asn782fs) rs1555420842
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer) rs1555420844
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr) rs767086502
NM_000057.4(BLM):c.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3191A>T (p.Asp1064Val) rs367543032
NM_000057.4(BLM):c.320dup (p.Leu107fs) rs781221411
NM_000057.4(BLM):c.3228del (p.Asp1076fs)
NM_000057.4(BLM):c.3450dup (p.Leu1151fs)
NM_000057.4(BLM):c.3538del (p.Val1180fs)
NM_000057.4(BLM):c.3569delinsAA (p.Met1190fs) rs1567063125
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.3901del (p.Leu1301fs) rs1555425063
NM_000057.4(BLM):c.4000_4004del (p.Arg1334fs) rs1057516261
NM_000057.4(BLM):c.689G>A (p.Trp230Ter) rs2151147939
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
NM_000057.4(BLM):c.890del (p.Asp297fs)
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000612.6(IGF2):c.100G>T (p.Gly34Cys) rs1858937359
NM_001002295.2(GATA3):c.431dup (p.His145fs) rs1588377948
NM_001002295.2(GATA3):c.524C>A (p.Ser175Ter)
NM_001002295.2(GATA3):c.614del (p.Met205fs)
NM_001110792.2(MECP2):c.934_935dup (p.Leu313fs)
NM_001211.6(BUB1B):c.239+2T>C
NM_001211.6(BUB1B):c.243del (p.Arg80_Tyr81insTer)
NM_001211.6(BUB1B):c.995del (p.Ala332fs)
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) rs2149843640
NM_022455.5(NSD1):c.5732_5733delinsAA (p.Cys1911Ter)
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_030665.4(RAI1):c.3572del (p.Ser1191fs)
NM_030665.4(RAI1):c.5600T>C (p.Ile1867Thr)
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833

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