ClinVar Miner

List of variants studied for autosomal recessive severe congenital neutropenia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000760.4(CSF3R):c.2041-30C>T rs3918021 0.00270
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538 0.00061
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu) rs183614500 0.00013
NM_006118.4(HAX1):c.221G>A (p.Arg74His) rs151225652 0.00004
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val) rs755370892 0.00003
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser) rs763746492 0.00001
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) rs782797599 0.00001
NM_000760.4(CSF3R):c.1072-10T>C rs1557592278
NM_006118.4(HAX1):c.171C>T (p.Pro57=)
NM_138387.4(G6PC3):c.677+7C>T rs1045392209
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)

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