ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 3 by Revvity Omics, Revvity

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.592G>A (p.Val198Ile) rs144990171 0.00039
NM_032383.5(HPS3):c.1330C>A (p.His444Asn) rs138303522 0.00026
NM_032383.5(HPS3):c.338T>G (p.Val113Gly) rs763529688 0.00008
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter) rs200079039 0.00003
NM_032383.5(HPS3):c.1189C>T (p.Arg397Trp) rs121908316 0.00001
NM_032383.5(HPS3):c.2589+2T>C rs1411572278 0.00001
NM_032383.5(HPS3):c.1190_1194dup (p.Ser399fs) rs1309602954
NM_032383.5(HPS3):c.1509+1G>A rs746906314
NM_032383.5(HPS3):c.1778G>A (p.Trp593Ter) rs1723609962
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
NM_032383.5(HPS3):c.995_996dup (p.Leu333fs) rs763305108

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