ClinVar Miner

List of variants in gene SPRED1 reported as pathogenic for not provided

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053 0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941 0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter) rs1566876895
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312

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