ClinVar Miner

List of variants in gene combination CP, HPS3 reported as uncertain significance for Hermansky-Pudlak syndrome without pulmonary fibrosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_032383.5(HPS3):c.*135T>C rs375383865 0.01150
NM_000096.4(CP):c.*1081T>A rs188137938 0.00174
NM_032383.5(HPS3):c.*98A>T rs113951847 0.00139
NM_032383.5(HPS3):c.*96T>A rs879086473 0.00060
NM_032383.5(HPS3):c.*95A>C rs1013031553 0.00045
NM_032383.5(HPS3):c.2378T>C (p.Val793Ala) rs144099522 0.00038
NM_000096.4(CP):c.*373C>G rs370247691 0.00029
NM_000096.4(CP):c.*572A>G rs561191589 0.00011
NM_032383.5(HPS3):c.2936A>G (p.Asn979Ser) rs781373708 0.00010
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_000096.4(CP):c.*912C>G rs149920453 0.00005
NM_000096.4(CP):c.*343A>G rs886058085 0.00001
NM_032383.5(HPS3):c.*239G>A rs886058083 0.00001
NM_032383.5(HPS3):c.2699G>A (p.Arg900His) rs202157837 0.00001
NM_000096.4(CP):c.*1007T>A rs36120450
NM_000096.4(CP):c.*373C>T rs370247691
NM_000096.4(CP):c.*536G>C rs1725167347
NM_000096.4(CP):c.*583T>C rs886058084
NM_032383.5(HPS3):c.*138A>T rs1049481742
NM_032383.5(HPS3):c.*207C>T rs1725097839
NM_032383.5(HPS3):c.2658C>T (p.Asp886=) rs141916243
NM_032383.5(HPS3):c.2747C>G (p.Pro916Arg)
NM_032383.5(HPS3):c.2887+8G>T rs781312506
NM_032383.5(HPS3):c.2962A>G (p.Thr988Ala) rs922342164
NM_032383.5(HPS3):c.3011C>T (p.Thr1004Ile)

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