ClinVar Miner

List of variants in gene VPS37A reported as uncertain significance for hereditary spastic paraplegia

Included ClinVar conditions (140):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_152415.3(VPS37A):c.1162G>T (p.Ala388Ser) rs146329558 0.00051
NM_152415.3(VPS37A):c.700C>A (p.Leu234Ile) rs150912414 0.00029
NM_152415.3(VPS37A):c.430C>A (p.Pro144Thr) rs373775451 0.00023
NM_152415.3(VPS37A):c.929C>T (p.Thr310Ile) rs146110170 0.00009
NM_152415.3(VPS37A):c.512C>G (p.Thr171Ser) rs200401367 0.00006
NM_152415.3(VPS37A):c.215A>T (p.Gln72Leu) rs758481758 0.00005
NM_152415.3(VPS37A):c.787A>C (p.Lys263Gln) rs199781923 0.00004
NM_152415.3(VPS37A):c.892T>A (p.Leu298Ile) rs750264592 0.00004
NM_152415.3(VPS37A):c.969+6A>G rs757678084 0.00003
NM_152415.3(VPS37A):c.398C>G (p.Thr133Ser) rs757735101 0.00002
NM_152415.3(VPS37A):c.421T>C (p.Tyr141His) rs753491148 0.00002
NM_152415.3(VPS37A):c.802G>A (p.Asp268Asn) rs574438273 0.00002
NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly) rs768941323 0.00002
NM_152415.3(VPS37A):c.424A>G (p.Ser142Gly) rs371463914 0.00001
NM_152415.3(VPS37A):c.451G>T (p.Ala151Ser) rs1326352833 0.00001
NM_152415.3(VPS37A):c.539C>G (p.Ser180Cys) rs778062997 0.00001
NM_152415.3(VPS37A):c.556C>A (p.His186Asn) rs774817335 0.00001
NM_152415.3(VPS37A):c.560C>T (p.Thr187Ile) rs759995761 0.00001
NM_152415.3(VPS37A):c.642+10G>A rs531893337 0.00001
NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg) rs201069468 0.00001
NM_152415.3(VPS37A):c.745G>A (p.Glu249Lys) rs759116675 0.00001
NM_152415.3(VPS37A):c.853C>G (p.Leu285Val) rs771451141 0.00001
NM_152415.3(VPS37A):c.866G>A (p.Ser289Asn) rs376210724 0.00001
NM_152415.3(VPS37A):c.928A>G (p.Thr310Ala) rs773070587 0.00001
NC_000008.10:g.(?_17133886)_(17133996_?)del
NM_152415.3(VPS37A):c.1053C>G (p.Asp351Glu) rs2285269
NM_152415.3(VPS37A):c.1081G>A (p.Asp361Asn)
NM_152415.3(VPS37A):c.1145A>C (p.Lys382Thr) rs1554498242
NM_152415.3(VPS37A):c.1157C>T (p.Ala386Val)
NM_152415.3(VPS37A):c.1165A>G (p.Met389Val)
NM_152415.3(VPS37A):c.1165A>T (p.Met389Leu) rs773370398
NM_152415.3(VPS37A):c.1168C>T (p.His390Tyr)
NM_152415.3(VPS37A):c.1191A>G (p.Leu397=)
NM_152415.3(VPS37A):c.126-1G>C
NM_152415.3(VPS37A):c.131C>A (p.Ala44Asp)
NM_152415.3(VPS37A):c.163C>A (p.Pro55Thr)
NM_152415.3(VPS37A):c.215A>G (p.Gln72Arg)
NM_152415.3(VPS37A):c.258A>G (p.Ile86Met)
NM_152415.3(VPS37A):c.296C>A (p.Thr99Asn) rs1813663437
NM_152415.3(VPS37A):c.315+4T>G
NM_152415.3(VPS37A):c.31G>T (p.Ala11Ser)
NM_152415.3(VPS37A):c.32C>G (p.Ala11Gly)
NM_152415.3(VPS37A):c.350A>G (p.Gln117Arg)
NM_152415.3(VPS37A):c.361G>A (p.Asp121Asn) rs1020184933
NM_152415.3(VPS37A):c.404C>T (p.Thr135Ile)
NM_152415.3(VPS37A):c.416+3A>G rs1813723711
NM_152415.3(VPS37A):c.417-2A>G rs752142940
NM_152415.3(VPS37A):c.424A>T (p.Ser142Cys) rs371463914
NM_152415.3(VPS37A):c.512C>T (p.Thr171Ile)
NM_152415.3(VPS37A):c.526G>A (p.Ala176Thr) rs1346953622
NM_152415.3(VPS37A):c.526G>T (p.Ala176Ser) rs1346953622
NM_152415.3(VPS37A):c.532A>C (p.Thr178Pro) rs1814361607
NM_152415.3(VPS37A):c.533C>G (p.Thr178Ser)
NM_152415.3(VPS37A):c.545CAA[2] (p.Thr184del)
NM_152415.3(VPS37A):c.571C>G (p.Pro191Ala)
NM_152415.3(VPS37A):c.577G>A (p.Ala193Thr)
NM_152415.3(VPS37A):c.577G>T (p.Ala193Ser) rs374964443
NM_152415.3(VPS37A):c.623C>T (p.Thr208Ile) rs757586403
NM_152415.3(VPS37A):c.625G>A (p.Val209Met) rs1284443376
NM_152415.3(VPS37A):c.641C>T (p.Pro214Leu)
NM_152415.3(VPS37A):c.642+7A>G
NM_152415.3(VPS37A):c.642G>A (p.Pro214=) rs747596394
NM_152415.3(VPS37A):c.644C>G (p.Thr215Arg)
NM_152415.3(VPS37A):c.656G>A (p.Gly219Asp)
NM_152415.3(VPS37A):c.676G>C (p.Asp226His)
NM_152415.3(VPS37A):c.685G>T (p.Asp229Tyr)
NM_152415.3(VPS37A):c.718T>A (p.Ser240Thr)
NM_152415.3(VPS37A):c.735G>A (p.Met245Ile)
NM_152415.3(VPS37A):c.737A>T (p.Asn246Ile)
NM_152415.3(VPS37A):c.751G>A (p.Val251Ile)
NM_152415.3(VPS37A):c.791A>G (p.Gln264Arg) rs1164015467
NM_152415.3(VPS37A):c.817G>A (p.Val273Ile)
NM_152415.3(VPS37A):c.821A>G (p.Lys274Arg)
NM_152415.3(VPS37A):c.827T>C (p.Ile276Thr)
NM_152415.3(VPS37A):c.865A>C (p.Ser289Arg)
NM_152415.3(VPS37A):c.874G>T (p.Ala292Ser) rs776392994
NM_152415.3(VPS37A):c.898A>C (p.Lys300Gln)
NM_152415.3(VPS37A):c.904G>A (p.Glu302Lys)
NM_152415.3(VPS37A):c.950G>C (p.Arg317Thr)
NM_152415.3(VPS37A):c.96G>T (p.Leu32=) rs199577037
NM_152415.3(VPS37A):c.989T>G (p.Leu330Arg)

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