ClinVar Miner

List of variants in gene SPRED1 reported as likely pathogenic

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Total variants: 16
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HGVS dbSNP
GRCh37/hg19 15q14(chr15:38466370-38578075)x1
NM_152594.3(SPRED1):c.1048_1060del (p.Gly350fs) rs1057517943
NM_152594.3(SPRED1):c.1196dup (p.Phe400fs) rs1555392791
NM_152594.3(SPRED1):c.1_2del (p.Met1fs) rs1555386649
NM_152594.3(SPRED1):c.207+1G>A rs1595733611
NM_152594.3(SPRED1):c.207+1G>T
NM_152594.3(SPRED1):c.24del (p.Asp9fs) rs1555386654
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer) rs1595746858
NM_152594.3(SPRED1):c.376+1G>A
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile)
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln) rs1057518150
NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter) rs1566876690
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) rs1555392750
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs) rs1595763662
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs) rs1595763659

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