ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 50 by 3billion

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter) rs1562912305 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter) rs780030221 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004722.4(AP4M1):c.128_132del (p.Asp43fs)
NM_004722.4(AP4M1):c.566T>G (p.Leu189Trp) rs2116643609
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249

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