ClinVar Miner

List of variants studied for Spongy degeneration of central nervous system by Invitae

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Total variants: 31
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HGVS dbSNP
NC_000017.11:g.(?_3489225)_(3499098_?)del
NC_000017.11:g.(?_3489235)_(3729555_?)del
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.245T>C (p.Met82Thr) rs80099330
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.432G>A (p.Lys144=) rs754087904
NM_000049.3(ASPA):c.503G>A (p.Arg168His) rs770706390
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) rs144321760
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.550C>T (p.Gln184Ter) rs1597439028
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.788T>C (p.Leu263Ser) rs755061005
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.820G>A (p.Gly274Arg) rs761064915
NM_000049.3(ASPA):c.831C>T (p.Thr277=) rs78677072
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.3(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.3(ASPA):c.927C>T (p.Arg309=) rs749049390
NM_000049.4(ASPA):c.147dup (p.Pro50fs) rs1597422432
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
NM_000049.4(ASPA):c.236+2T>C
NM_000049.4(ASPA):c.237-6T>C rs370219865
NM_000049.4(ASPA):c.328G>C (p.Asp110His)
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.731A>C (p.His244Pro)
NM_000049.4(ASPA):c.740T>C (p.Leu247Pro)
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp)
NM_001321336.1(SPATA22):c.-74+14393_-74+14396del rs766720790

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