ClinVar Miner

List of variants reported as uncertain significance by Servicio Canario de Salud, Hospital Universitario Nuestra Sra. de Candelaria

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr) rs397516233 0.00004
NM_006445.4(PRPF8):c.385G>A (p.Val129Ile) rs548682365 0.00003
NM_001282225.2(ADA2):c.289C>G (p.Gln97Glu) rs370709874 0.00002
NM_198282.4(STING1):c.40A>C (p.Arg14=) rs761439213 0.00001
NC_000017.11:g.(43115737_43124057)_(43126177_43130057)[3]
NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr) rs1568810660
NM_001103.4(ACTN2):c.2407C>T (p.Pro803Ser)
NM_001364171.2:c.(360+1_361-1)_(597+1_597-1)del
NM_003722.5(TP63):c.1054A>G (p.Arg352Gly) rs121908847
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) rs1603223158
NM_014625.4(NPHS2):c.336CAT[2] (p.Ile114del)
NM_020297.4(ABCC9):c.454T>G (p.Leu152Val)

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