List of variants in gene AP4M1 reported as pathogenic for hereditary spastic paraplegia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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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.916C>T (p.Arg306Ter)	rs369459721	0.00004
NM_004722.4(AP4M1):c.1320dup (p.Arg441fs)	rs1437455190	0.00003
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter)	rs777220438	0.00001
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.1317G>A (p.Trp439Ter)	rs772119268	0.00001
NM_004722.4(AP4M1):c.142del (p.Val48fs)	rs764326593	0.00001
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)	rs387906838	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
NC_000007.13:g.(?_99703861)_(99704170_?)del
NM_004722.4(AP4M1):c.1012del (p.Arg338fs)	rs2116668499
NM_004722.4(AP4M1):c.1183_1196del (p.Thr395fs)
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)	rs886041126
NM_004722.4(AP4M1):c.218dup (p.Asn73fs)	rs1321353475
NM_004722.4(AP4M1):c.32del (p.Lys11fs)	rs797045249
NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)
NM_004722.4(AP4M1):c.52_58+6del	rs1350685858
NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter)	rs1796279189
NM_004722.4(AP4M1):c.555_556del (p.Asn185fs)	rs2116643498
NM_004722.4(AP4M1):c.568del (p.Asp190fs)
NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)
NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)
NM_004722.4(AP4M1):c.776_777del (p.Val259fs)	rs1397027035
NM_004722.4(AP4M1):c.842_843del (p.Val281fs)	rs776788025
NM_004722.4(AP4M1):c.861dup (p.Asp288fs)
NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter)	rs1131691556
NM_004722.4(AP4M1):c.929+5G>A	rs1293317548
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)	rs730882249

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