ClinVar Miner

List of variants studied for lymphoid system disorder by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.1607A>G (p.Asn536Ser) rs1363908468 0.00001
NM_002834.5(PTPN11):c.854-14T>A rs2038526676
NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter) rs1057516208
NM_004523.4(KIF11):c.349G>T (p.Gly117Cys) rs1589590723
NM_005633.4(SOS1):c.848T>C (p.Phe283Ser) rs1572855029

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