ClinVar Miner

List of variants in gene ARPC1B reported as pathogenic for not provided

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005720.4(ARPC1B):c.64+1G>A rs111297226 0.00001
NM_005720.4(ARPC1B):c.899_944del (p.Glu300fs) rs1794611030 0.00001
NM_005720.4(ARPC1B):c.231C>A (p.Tyr77Ter) rs116204707
NM_005720.4(ARPC1B):c.258del (p.Thr85_Trp86insTer)
NM_005720.4(ARPC1B):c.323del (p.Glu108fs)
NM_005720.4(ARPC1B):c.392+2T>C
NM_005720.4(ARPC1B):c.64+2T>A
NM_005720.4(ARPC1B):c.739_743del (p.Leu247fs) rs760191638
NM_005720.4(ARPC1B):c.783G>A (p.Ala261=) rs779597975
NM_005720.4(ARPC1B):c.863del (p.Pro288fs)

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