ClinVar Miner

List of variants in gene SPRED1 reported as uncertain significance by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772 0.00011
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_152594.3(SPRED1):c.-2A>T rs773950720 0.00003
NM_152594.3(SPRED1):c.306G>A (p.Thr102=) rs372791883 0.00003
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=) rs768937237 0.00002
NM_152594.3(SPRED1):c.1001G>A (p.Arg334His) rs146702985 0.00001
NM_152594.3(SPRED1):c.511T>C (p.Ser171Pro) rs376527959 0.00001
NM_152594.3(SPRED1):c.951A>T (p.Ser317=) rs899712805 0.00001
NM_152594.3(SPRED1):c.250A>G (p.Lys84Glu) rs2140994791
NM_152594.3(SPRED1):c.317C>T (p.Pro106Leu) rs2140994900
NM_152594.3(SPRED1):c.43G>A (p.Ala15Thr) rs753924528
NM_152594.3(SPRED1):c.823G>T (p.Asp275Tyr) rs780737673
NM_152594.3(SPRED1):c.82A>G (p.Ser28Gly) rs2140978422

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