ClinVar Miner

List of variants reported as benign for Hereditary spastic paraplegia 50 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.462+34G>A rs999885 0.46041
NM_004722.4(AP4M1):c.812G>A (p.Arg271His) rs41280968 0.07094
NM_004722.4(AP4M1):c.255-16C>T rs74961284 0.01949
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=) rs4134932 0.01854
NM_004722.4(AP4M1):c.58+12C>T rs189367118 0.00997
NM_004722.4(AP4M1):c.228C>T (p.Pro76=) rs41280965 0.00663
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=) rs140843407 0.00656
NM_004722.4(AP4M1):c.1344C>T (p.Ala448=) rs57403878 0.00425
NM_004722.4(AP4M1):c.525G>A (p.Leu175=) rs113020957 0.00178
NM_004722.4(AP4M1):c.861C>T (p.Ser287=) rs142325884 0.00168
NM_004722.4(AP4M1):c.975-16C>G rs202052188 0.00082
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala) rs145887263 0.00075
NM_004722.4(AP4M1):c.960C>T (p.Asp320=) rs371162812 0.00029
NM_004722.4(AP4M1):c.1050A>G (p.Pro350=) rs139116680 0.00006
NM_004722.4(AP4M1):c.68A>G (p.Asp23Gly) rs767849761 0.00002
NM_004722.4(AP4M1):c.351+19del

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