ClinVar Miner

List of variants reported as benign for hereditary spastic paraplegia 4 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_014946.4(SPAST):c.1728+16A>G rs76494041 0.00731
NM_014946.4(SPAST):c.1493+18G>T rs189961829 0.00213
NM_014946.4(SPAST):c.865C>T (p.His289Tyr) rs74688377 0.00210
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_014946.4(SPAST):c.415+12G>A rs539075273 0.00115
NM_014946.4(SPAST):c.1173+17A>C rs200640366 0.00092
NM_014946.4(SPAST):c.683-9C>T rs202209866 0.00056
NM_014946.4(SPAST):c.243C>G (p.Arg81=) rs146956762 0.00047
NM_014946.4(SPAST):c.502+18T>C rs201013227 0.00036
NM_014946.4(SPAST):c.289C>A (p.Pro97Thr) rs372005558 0.00029
NM_014946.4(SPAST):c.1593A>G (p.Gln531=) rs754291673 0.00023
NM_014946.4(SPAST):c.828T>C (p.Ser276=) rs77525846 0.00002
NM_014946.4(SPAST):c.137A>G (p.His46Arg) rs778952334 0.00001
NM_014946.4(SPAST):c.127G>C (p.Glu43Gln)
NM_014946.4(SPAST):c.129G>C (p.Glu43Asp) rs542793579
NM_014946.4(SPAST):c.1494-3del
NM_014946.4(SPAST):c.1494-3dup rs760322678
NM_014946.4(SPAST):c.1536+27del
NM_014946.4(SPAST):c.1536+27dup
NM_014946.4(SPAST):c.503-8dup
NM_014946.4(SPAST):c.68G>A (p.Arg23Lys) rs558882317
NM_014946.4(SPAST):c.871-17del

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