ClinVar Miner

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

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
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_000057.4(BLM):c.2823+2T>A rs1896712920 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter) rs1567040469
NM_000057.4(BLM):c.1492A>T (p.Lys498Ter) rs2151158332
NM_000057.4(BLM):c.1544dup (p.Asn515fs) rs367543043
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.2580_2581del (p.His860fs) rs864622347
NM_000057.4(BLM):c.2801G>A (p.Trp934Ter) rs1896712163
NM_000057.4(BLM):c.357_358del (p.Cys120fs) rs748186908
NM_000057.4(BLM):c.709del (p.Cys237fs) rs1217879599
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_002049.4(GATA1):c.35C>G (p.Ser12Ter) rs2062673416
NM_022455.5(NSD1):c.1768_1769del (p.Leu590fs) rs2149843640
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs) rs762292772
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611

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