ClinVar Miner

List of variants studied for PEHO syndrome

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Total variants: 5
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NM_001365480.1(CCDC88A):c.5086G>A (p.Val1696Ile) rs140794014
NM_004321.7(KIF1A):c.296C>T (p.Thr99Met) rs387906799
NM_004321.7(KIF1A):c.646C>T (p.Arg216Cys) rs797045164
NM_004321.7(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) rs148890852

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