ClinVar Miner

List of variants studied for hematologic disorder by Unidade de Genética Molecular, Centro Hospitalar Universitário do Porto

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000173.7(GP1BA):c.580C>T (p.Leu194Phe) rs368111193 0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) rs760759446 0.00003
NM_000212.3(ITGB3):c.2209G>A (p.Ala737Thr) rs754764865 0.00001
NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs) rs2151108738
NM_000173.7(GP1BA):c.251_253del (p.Thr84del) rs2151107745
NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter) rs753768072
NM_000173.7(GP1BA):c.657C>A (p.His219Gln) rs574742436
NM_000212.3(ITGB3):c.1036-2A>G rs1567765995
NM_000212.3(ITGB3):c.173del (p.Pro58fs) rs2143089582
NM_000212.3(ITGB3):c.2236A>C (p.Thr746Pro) rs2143150698
NM_000212.3(ITGB3):c.2243A>C (p.His748Pro) rs2143150717
NM_000212.3(ITGB3):c.2278C>T (p.Arg760Cys) rs1431211616
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe) rs72547409
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys) rs2145796377
NM_000407.5(GP1BB):c.406G>T (p.Glu136Ter) rs953345181
NM_000419.5(ITGA2B):c.176A>G (p.Asp59Gly) rs2143506303
NM_000419.5(ITGA2B):c.2982del (p.Ile995fs) rs2143427606
NM_000419.5(ITGA2B):c.3020G>T (p.Gly1007Val) rs2143427279
NM_000419.5(ITGA2B):c.580G>A (p.Asp194Asn) rs1477253720
NM_001130004.2(ACTN1):c.342A>C (p.Glu114Asp) rs2140302263
NM_002473.6(MYH9):c.167_169del (p.Val56del) rs2146392922
NM_005105.5(RBM8A):c.343-2A>G rs2101877791

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