List of variants reported as likely pathogenic for Spongy degeneration of central nervous system by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 33

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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.(?_3384877)_(3386906_?)dup
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	rs1567608718
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	rs2150746934
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)	rs2543624402
NM_000049.4(ASPA):c.526+1G>C	rs2543624765
NM_000049.4(ASPA):c.526G>A (p.Gly176Ser)	rs2150748728
NM_000049.4(ASPA):c.527-1G>A	rs2543636035
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)	rs1555539857
NM_000049.4(ASPA):c.557T>C (p.Val186Ala)	rs747438350
NM_000049.4(ASPA):c.691T>C (p.Tyr231His)	rs778203652
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)	rs2543658121
NM_000049.4(ASPA):c.862T>C (p.Tyr288His)	rs2543658129
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)	rs1555538144
NM_000049.4(ASPA):c.902T>C (p.Leu301Pro)	rs2073958098
NM_000049.4(ASPA):c.904dup (p.Thr302fs)	rs2150764241

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