ClinVar Miner

List of variants studied for Hermansky-Pudlak syndrome 8

Included ClinVar conditions (1):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) rs758506 0.13313
NM_212550.5(BLOC1S3):c.449A>G (p.Gln150Arg) rs948696809 0.00014
NM_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter) rs281865115 0.00003
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu) rs1021933564 0.00001
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) rs1568469902
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) rs1969482515
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) rs754841982
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs) rs281865116
NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser) rs200799185
NM_212550.5(BLOC1S3):c.86G>T (p.Arg29Leu)

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