ClinVar Miner

List of variants reported as uncertain significance for Hermansky-Pudlak syndrome 9

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Total variants: 16
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HGVS dbSNP
NM_012388.3(BLOC1S6):c.131T>C (p.Ile44Thr) rs374731803
NM_012388.3(BLOC1S6):c.182T>G (p.Leu61Trp) rs1048656816
NM_012388.3(BLOC1S6):c.196A>G (p.Arg66Gly) rs1595552977
NM_012388.3(BLOC1S6):c.205C>G (p.Gln69Glu) rs775671194
NM_012388.3(BLOC1S6):c.286C>T (p.His96Tyr) rs1595559213
NM_012388.3(BLOC1S6):c.294G>T (p.Met98Ile) rs574333116
NM_012388.3(BLOC1S6):c.391A>G (p.Lys131Glu) rs1339131805
NM_012388.3(BLOC1S6):c.421C>T (p.Gln141Ter) rs759015758
NM_012388.3(BLOC1S6):c.501A>T (p.Arg167Ser) rs775510569
NM_012388.3(BLOC1S6):c.79C>T (p.Pro27Ser) rs138284359
NM_012388.4(BLOC1S6):c.103G>A (p.Asp35Asn)
NM_012388.4(BLOC1S6):c.110G>A (p.Gly37Glu)
NM_012388.4(BLOC1S6):c.115A>G (p.Ile39Val)
NM_012388.4(BLOC1S6):c.187G>A (p.Asp63Asn)
NM_012388.4(BLOC1S6):c.319G>A (p.Glu107Lys)
NM_012388.4(BLOC1S6):c.82+6del

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