ClinVar Miner

List of variants studied for autosomal dominant spastic paraplegia type 9 by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.1152+8_1152+9del rs373488364 0.00011
NM_002860.4(ALDH18A1):c.1264C>G (p.Leu422Val) rs142712849 0.00009
NM_002860.4(ALDH18A1):c.2335A>G (p.Ser779Gly) rs143874727 0.00006
NM_002860.4(ALDH18A1):c.2383A>G (p.Asn795Asp) rs747918055 0.00003
NM_002860.4(ALDH18A1):c.2217G>A (p.Val739=) rs1002367939 0.00002
NM_002860.4(ALDH18A1):c.2140G>A (p.Val714Ile) rs756291410 0.00001
NM_002860.4(ALDH18A1):c.306A>G (p.Val102=) rs773545430 0.00001
NM_002860.4(ALDH18A1):c.969T>A (p.Thr323=) rs751578810 0.00001
NC_000010.10:g.(?_97376214)_(97376391_?)del
NM_002860.4(ALDH18A1):c.1473A>T (p.Ala491=) rs1374293487
NM_002860.4(ALDH18A1):c.1740C>G (p.Ser580Arg) rs139035272
NM_002860.4(ALDH18A1):c.303+4_303+7dup rs772902503
NM_002860.4(ALDH18A1):c.973G>T (p.Val325Phe) rs192770256

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