ClinVar Miner

List of variants in gene DIAPH1 reported as likely pathogenic

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_005219.5(DIAPH1):c.145-1G>A rs763349669 0.00001
NM_005219.5(DIAPH1):c.1280+2T>G rs2154596416
NM_005219.5(DIAPH1):c.144+2T>G
NM_005219.5(DIAPH1):c.1511del (p.Lys504fs)
NM_005219.5(DIAPH1):c.1838dup (p.Pro614fs) rs2154596304
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) rs730882242
NM_005219.5(DIAPH1):c.2676+2T>G
NM_005219.5(DIAPH1):c.2901dup (p.Arg968fs) rs2099887774
NM_005219.5(DIAPH1):c.2945T>G (p.Leu982Arg) rs1596339533
NM_005219.5(DIAPH1):c.3116dup (p.Asp1039fs) rs2099887720
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.3490C>T (p.Arg1164Ter) rs753100456
NM_005219.5(DIAPH1):c.3575-50_3661+36inv
NM_005219.5(DIAPH1):c.3629_3630del (p.Ala1210fs) rs1596335566
NM_005219.5(DIAPH1):c.402+2T>C rs2154596613
NM_005219.5(DIAPH1):c.621-2A>G rs2099896905
NM_005219.5(DIAPH1):c.77dup (p.Pro27fs) rs1596421912
NM_005219.5(DIAPH1):c.933+2C>T

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