ClinVar Miner

List of variants reported as uncertain significance for Spastic Paraplegia, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_003758.4(EIF3J):c.*1574_*1578dup rs886051173 0.00004
NM_001166114.2(PNPLA6):c.*105C>T rs886054699 0.00003
NM_003758.4(EIF3J):c.*1601_*1604dup rs886051174 0.00003
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) rs201281307 0.00003
NM_015346.4(ZFYVE26):c.3754C>T (p.Arg1252Cys) rs373621715 0.00003
NM_001244008.2(KIF1A):c.75G>C (p.Lys25Asn) rs768320178 0.00001
NM_003119.4(SPG7):c.*524dup rs886052476 0.00001
NM_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr) rs886063072 0.00001
NM_001244008.2(KIF1A):c.*1972del rs886055831
NM_001244008.2(KIF1A):c.*249dup rs886055835
NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=) rs527977882
NM_003119.4(SPG7):c.1780-16_1780-14del rs863224213
NM_003758.4(EIF3J):c.*1652G>A rs886051175
NM_004820.5(CYP7B1):c.123-19dup rs8192895
NM_004820.5(CYP7B1):c.260-15dup rs8192896
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=) rs886063073
NM_014855.3(AP5Z1):c.*1136del rs558006465
NM_014855.3(AP5Z1):c.*2767CT[1] rs886062367
NM_014855.3(AP5Z1):c.*3005del rs886062368
NM_015346.4(ZFYVE26):c.4502C>T (p.Thr1501Met) rs201034965
NM_015346.4(ZFYVE26):c.5622-10_5622-9del rs768978705
NM_015915.5(ATL1):c.353G>A (p.Arg118Gln) rs606231265
NM_025137.4(SPG11):c.4636-11_4636-10del rs765481566
NM_025137.4(SPG11):c.6205+9dup rs775165218
NM_025137.4(SPG11):c.6477+13del rs574960359

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