ClinVar Miner

List of variants studied for Perrault syndrome 5

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Total variants: 6
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NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly) rs672601361
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser) rs672601360
NM_021830.5(TWNK):c.737A>G (p.Asn246Ser) rs754081544
NM_021830.5(TWNK):c.874C>A (p.Pro292Thr) rs759603316

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