ClinVar Miner

List of variants in gene NIPA1 reported as likely benign for Hereditary spastic paraplegia 6

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_144599.5(NIPA1):c.312G>A (p.Pro104=) rs139372534 0.00051
NM_144599.5(NIPA1):c.681C>T (p.Leu227=) rs200282898 0.00015
NM_144599.5(NIPA1):c.753G>C (p.Ala251=) rs199718530 0.00013
NM_144599.5(NIPA1):c.525C>T (p.Leu175=) rs769522060 0.00012
NM_144599.5(NIPA1):c.315C>T (p.Phe105=) rs373273269 0.00011
NM_144599.5(NIPA1):c.*4496A>T rs186274091 0.00010
NM_144599.5(NIPA1):c.448G>T (p.Ala150Ser) rs376665085 0.00008
NM_144599.5(NIPA1):c.291C>G (p.Pro97=) rs199818530 0.00006
NM_144599.5(NIPA1):c.479-20G>C rs372189145 0.00006
NM_144599.5(NIPA1):c.711C>T (p.Leu237=) rs773200808 0.00006
NM_144599.5(NIPA1):c.774G>A (p.Ser258=) rs371993191 0.00006
NM_144599.5(NIPA1):c.471C>G (p.Thr157=) rs200540082 0.00004
NM_144599.5(NIPA1):c.179-4A>G rs768609874 0.00003
NM_144599.5(NIPA1):c.264G>A (p.Thr88=) rs749905981 0.00003
NM_144599.5(NIPA1):c.702G>A (p.Leu234=) rs891513416 0.00003
NM_144599.5(NIPA1):c.759G>A (p.Glu253=) rs781769053 0.00003
NM_144599.5(NIPA1):c.795C>T (p.Tyr265=) rs750160025 0.00003
NM_144599.5(NIPA1):c.810G>A (p.Thr270=) rs138394129 0.00003
NM_144599.5(NIPA1):c.*4156A>G rs577403895 0.00002
NM_144599.5(NIPA1):c.399C>T (p.Ser133=) rs374424039 0.00002
NM_144599.5(NIPA1):c.606C>T (p.Thr202=) rs532211468 0.00002
NM_144599.5(NIPA1):c.204G>A (p.Val68=) rs781548508 0.00001
NM_144599.5(NIPA1):c.226+19G>A rs1459069786 0.00001
NM_144599.5(NIPA1):c.227-5G>C rs1316207962 0.00001
NM_144599.5(NIPA1):c.267G>A (p.Ala89=) rs751391752 0.00001
NM_144599.5(NIPA1):c.292C>T (p.Leu98=) rs1235395631 0.00001
NM_144599.5(NIPA1):c.324T>C (p.Ile108=) rs748004567 0.00001
NM_144599.5(NIPA1):c.417C>T (p.His139=) rs2140874968 0.00001
NM_144599.5(NIPA1):c.479-7G>T rs758551462 0.00001
NM_144599.5(NIPA1):c.479-9G>A rs1566789035 0.00001
NM_144599.5(NIPA1):c.501C>T (p.Ile167=) rs766904699 0.00001
NM_144599.5(NIPA1):c.549T>C (p.His183=) rs1895593601 0.00001
NM_144599.5(NIPA1):c.726C>T (p.Ile242=) rs143840469 0.00001
NM_144599.5(NIPA1):c.765C>T (p.Phe255=) rs369533629 0.00001
NM_144599.5(NIPA1):c.798C>T (p.Val266=) rs1008907564 0.00001
NM_144599.5(NIPA1):c.864G>T (p.Leu288=) rs748735198 0.00001
NC_000015.9:g.(?_23086214)_(23086411_?)del
NM_144599.5(NIPA1):c.*2781G>T rs192859420
NM_144599.5(NIPA1):c.179-11A>C rs2504968324
NM_144599.5(NIPA1):c.179-9T>C rs1895300749
NM_144599.5(NIPA1):c.216C>G (p.Gly72=) rs1016761294
NM_144599.5(NIPA1):c.222C>T (p.Ile74=) rs778472114
NM_144599.5(NIPA1):c.291C>A (p.Pro97=) rs199818530
NM_144599.5(NIPA1):c.291C>T (p.Pro97=) rs199818530
NM_144599.5(NIPA1):c.317+13A>G rs372614917
NM_144599.5(NIPA1):c.318-12T>G rs2503810281
NM_144599.5(NIPA1):c.411T>C (p.Ile137=) rs1202986314
NM_144599.5(NIPA1):c.432G>A (p.Glu144=) rs150900309
NM_144599.5(NIPA1):c.479-11C>T rs2140877624
NM_144599.5(NIPA1):c.479-7G>A rs758551462
NM_144599.5(NIPA1):c.480G>A (p.Val160=) rs2503819780
NM_144599.5(NIPA1):c.573C>T (p.Tyr191=) rs2503820116
NM_144599.5(NIPA1):c.768C>T (p.Asp256=)
NM_144599.5(NIPA1):c.774G>T (p.Ser258=) rs371993191
NM_144599.5(NIPA1):c.801G>A (p.Val267=) rs185222838
NM_144599.5(NIPA1):c.837C>T (p.Leu279=) rs376319442
NM_144599.5(NIPA1):c.894C>T (p.Phe298=) rs1555374032
NM_144599.5(NIPA1):c.897G>T (p.Thr299=) rs368507906

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