ClinVar Miner

List of variants studied for hereditary spastic paraplegia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (133):
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Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024306.5(FA2H):c.879C>T (p.Pro293=) rs2301865 0.77852
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74241
NM_012073.5(CCT5):c.-23G>A rs2548546 0.74239
NM_012073.5(CCT5):c.198A>G (p.Gly66=) rs2578617 0.73455
NM_012073.5(CCT5):c.1317+10C>A rs2578642 0.73429
NM_012073.5(CCT5):c.-10T>C rs2578618 0.73426
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_007347.5(AP4E1):c.222+18G>A rs1147129 0.56600
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00406
NM_015346.4(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975 0.00246
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00103
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_003119.4(SPG7):c.987+5A>G rs4785691

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