ClinVar Miner

List of variants reported as uncertain significance for lymphoid system disorder by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_006939.4(SOS2):c.643C>T (p.Arg215Trp) rs745812984 0.00001
NM_000271.5(NPC1):c.1997G>A (p.Ser666Asn)
NM_002745.5(MAPK1):c.320T>C (p.Leu107Pro)
NM_002880.4(RAF1):c.188C>T (p.Pro63Leu)
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly) rs2124537699
NM_005633.4(SOS1):c.427A>G (p.Lys143Glu) rs1671228827
NM_006767.4(LZTR1):c.295G>T (p.Asp99Tyr)
NM_006767.4(LZTR1):c.527C>T (p.Ser176Leu) rs2147962674
NM_012250.6(RRAS2):c.560C>G (p.Pro187Arg)
NM_032638.5(GATA2):c.659G>T (p.Ser220Ile) rs2068689916
NM_172071.4(RC3H1):c.71C>T (p.Thr24Ile)

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