ClinVar Miner

List of variants studied for lymphoid system disorder by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser) rs199693280 0.00002
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser) rs201821194 0.00002
NM_000081.4(LYST):c.11268-5del rs36014994
NM_000271.5(NPC1):c.1289C>G (p.Pro430Arg) rs2145455455
NM_000271.5(NPC1):c.2131-4del rs11299077
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu) rs1398817791
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813

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