ClinVar Miner

List of variants reported as likely pathogenic for Canavan disease by Invitae

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.237-2A>T rs780936696 0.00002
NM_000049.4(ASPA):c.160A>C (p.Asn54His) rs757607501 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp) rs745832703 0.00001
NC_000017.10:g.(?_3392519)_(3392646_?)del
NC_000017.10:g.(?_3397634)_(3402392_?)del
NM_000049.4(ASPA):c.169G>T (p.Ala57Ser) rs2150741844
NM_000049.4(ASPA):c.211C>T (p.Arg71Cys) rs1192320601
NM_000049.4(ASPA):c.236+2T>A
NM_000049.4(ASPA):c.236+2T>C rs1567608718
NM_000049.4(ASPA):c.341A>C (p.Asp114Ala) rs2073632657
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.432+1G>A
NM_000049.4(ASPA):c.432+1G>C rs2150746934
NM_000049.4(ASPA):c.433-2A>G rs63751297
NM_000049.4(ASPA):c.455G>C (p.Cys152Ser)
NM_000049.4(ASPA):c.526+1G>C
NM_000049.4(ASPA):c.527-1G>A
NM_000049.4(ASPA):c.527-2A>C rs778385612
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.4(ASPA):c.548C>T (p.Pro183Leu)
NM_000049.4(ASPA):c.557T>C (p.Val186Ala)
NM_000049.4(ASPA):c.691T>C (p.Tyr231His)
NM_000049.4(ASPA):c.731A>G (p.His244Arg) rs1057516995
NM_000049.4(ASPA):c.821G>A (p.Gly274Glu) rs2150764080
NM_000049.4(ASPA):c.860C>T (p.Ala287Val)
NM_000049.4(ASPA):c.862T>C (p.Tyr288His)
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.4(ASPA):c.904dup (p.Thr302fs) rs2150764241

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