ClinVar Miner

List of variants studied for PEHO syndrome

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Total variants: 5

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HGVS	dbSNP
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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