ClinVar Miner

List of variants reported as uncertain significance for lymphoid system disorder by 3billion, Medical Genetics

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636 0.00010
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val) rs137960099 0.00010
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr) rs1461508819 0.00001
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000271.5(NPC1):c.2597T>C (p.Met866Thr) rs1181604094
NM_000543.5(SMPD1):c.1548T>G (p.His516Gln) rs1590747902
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_002880.4(RAF1):c.478C>T (p.Leu160Phe)
NM_004985.5(KRAS):c.76A>C (p.Asn26His) rs794727277
NM_005633.4(SOS1):c.1289A>G (p.Asp430Gly) rs2124537699
NM_005633.4(SOS1):c.2117G>A (p.Arg706Lys) rs2124517554
NM_006912.6(RIT1):c.116T>C (p.Met39Thr) rs2102590945
NM_199242.3(UNC13D):c.1193C>T (p.Ser398Leu) rs747756030
NM_199242.3(UNC13D):c.3049G>A (p.Glu1017Lys)
NM_199242.3(UNC13D):c.902A>G (p.His301Arg) rs2143891961

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