ClinVar Miner

List of variants in gene combination LOC130059818, SPG7 reported as uncertain significance for Hereditary spastic paraplegia 7

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648 0.00779
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr) rs535030441 0.00136
NM_003119.4(SPG7):c.80C>G (p.Pro27Arg) rs878854605 0.00013
NM_003119.4(SPG7):c.89G>A (p.Ser30Asn) rs863224215 0.00013
NM_003119.4(SPG7):c.76G>T (p.Gly26Cys) rs763721899 0.00011
NM_003119.4(SPG7):c.161A>G (p.Glu54Gly) rs750617337 0.00009
NM_003119.4(SPG7):c.182A>G (p.Gln61Arg) rs1306012072 0.00003
NM_003119.4(SPG7):c.25C>T (p.Arg9Cys) rs1368314619 0.00002
NM_003119.4(SPG7):c.183+7C>T rs1356178300 0.00001
NM_003119.4(SPG7):c.32T>C (p.Leu11Pro) rs943187212 0.00001
NM_003119.4(SPG7):c.40G>A (p.Gly14Ser) rs1242380690 0.00001
NM_003119.4(SPG7):c.100C>A (p.Pro34Thr)
NM_003119.4(SPG7):c.101C>T (p.Pro34Leu)
NM_003119.4(SPG7):c.11T>C (p.Leu4Pro)
NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)
NM_003119.4(SPG7):c.132G>A (p.Met44Ile)
NM_003119.4(SPG7):c.132G>T (p.Met44Ile)
NM_003119.4(SPG7):c.141G>A (p.Arg47=) rs886052473
NM_003119.4(SPG7):c.146C>T (p.Pro49Leu)
NM_003119.4(SPG7):c.161A>T (p.Glu54Val) rs750617337
NM_003119.4(SPG7):c.164C>A (p.Ala55Asp) rs2057963306
NM_003119.4(SPG7):c.167G>A (p.Gly56Glu) rs11559074
NM_003119.4(SPG7):c.28G>A (p.Ala10Thr)
NM_003119.4(SPG7):c.28G>T (p.Ala10Ser) rs577872969
NM_003119.4(SPG7):c.50C>G (p.Pro17Arg) rs956304326
NM_003119.4(SPG7):c.50C>T (p.Pro17Leu)
NM_003119.4(SPG7):c.52G>A (p.Gly18Ser)
NM_003119.4(SPG7):c.66G>C (p.Leu22=) rs1167383291
NM_003119.4(SPG7):c.80C>A (p.Pro27Gln)
NM_003119.4(SPG7):c.90T>G (p.Ser30Arg)
NM_003119.4(SPG7):c.99C>G (p.Phe33Leu) rs1331243813
NM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup) rs781285980
NM_003119.4(SPG7):c.9GCT[8] (p.Leu8_Arg9insLeuLeuLeu)

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