ClinVar Miner

List of variants in gene HAX1 studied for autosomal recessive severe congenital neutropenia

Included ClinVar conditions (6):
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
HAX1, 1-BP DEL, 91G
HAX1, 1-BP INS, 431G
HAX1, 59-BP DEL, NT376
NM_001018837.2(HAX1):c.54-107del rs764082747
NM_001018837.2(HAX1):c.54-25dup
NM_001018837.2(HAX1):c.54-68_54-67insA
NM_001018837.2(HAX1):c.54-73dup
NM_001018837.2(HAX1):c.54-81_54-76dup rs781468690
NM_006118.3(HAX1):c.105_110dup (p.Glu39_Glu40dup)
NM_006118.3(HAX1):c.11T>C (p.Phe4Ser)
NM_006118.3(HAX1):c.122G>T (p.Gly41Val)
NM_006118.3(HAX1):c.14A>C (p.Asp5Ala) rs747374340
NM_006118.3(HAX1):c.160C>G (p.Pro54Ala)
NM_006118.3(HAX1):c.207A>T (p.Pro69=) rs142150013
NM_006118.3(HAX1):c.256C>T (p.Arg86Ter) rs121908165
NM_006118.3(HAX1):c.317-2A>G
NM_006118.3(HAX1):c.339G>C (p.Glu113Asp)
NM_006118.3(HAX1):c.376C>T (p.Arg126Trp)
NM_006118.3(HAX1):c.383C>G (p.Ser128Ter) rs1398108109
NM_006118.3(HAX1):c.407del (p.His136fs)
NM_006118.3(HAX1):c.428G>C (p.Gly143Ala)
NM_006118.3(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.3(HAX1):c.46C>T (p.Pro16Ser)
NM_006118.3(HAX1):c.514G>A (p.Val172Ile) rs141970914
NM_006118.3(HAX1):c.568C>T (p.Gln190Ter) rs74315322
NM_006118.3(HAX1):c.679C>T (p.Arg227Trp)
NM_006118.3(HAX1):c.724C>T (p.Arg242Ter) rs760377093
NM_006118.3(HAX1):c.829C>T (p.Arg277Trp) rs138296453
NM_006118.3(HAX1):c.96_98TGA[2] (p.Asp34del) rs560912060

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