ClinVar Miner

List of variants studied for Spongy degeneration of central nervous system by Baylor Genetics

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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279 0.00027
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574 0.00015
NM_000049.4(ASPA):c.212G>A (p.Arg71His) rs104894553 0.00013
NM_000049.4(ASPA):c.746A>T (p.Asp249Val) rs104894552 0.00006
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00003
NM_000049.4(ASPA):c.237-2A>T rs780936696 0.00002
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg) rs761064915 0.00002
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser) rs750505963 0.00002
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys) rs779440632 0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu) rs1057521115 0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr) rs769653717 0.00001
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540 0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His) rs770706390 0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr) rs786204572 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000049.4(ASPA):c.677T>C (p.Ile226Thr) rs201887670 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr) rs774323189 0.00001
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp) rs745832703 0.00001
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter) rs2150741763
NM_000049.4(ASPA):c.147dup (p.Pro50fs) rs1597422432
NM_000049.4(ASPA):c.169G>A (p.Ala57Thr) rs2150741844
NM_000049.4(ASPA):c.192del (p.Arg63_Tyr64insTer) rs2073522549
NM_000049.4(ASPA):c.236+1G>T rs1555538157
NM_000049.4(ASPA):c.237-1G>T rs1057517291
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.245del (p.Met82fs) rs1057516962
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter) rs2543619356
NM_000049.4(ASPA):c.321_322del (p.Ser108fs) rs1289890879
NM_000049.4(ASPA):c.34_46del (p.Gln12fs) rs2543606372
NM_000049.4(ASPA):c.358_361del (p.Ser120fs) rs2073633067
NM_000049.4(ASPA):c.362del (p.Asn121fs) rs2543619739
NM_000049.4(ASPA):c.376_377del (p.Leu126fs) rs2543619809
NM_000049.4(ASPA):c.382del (p.Glu129fs) rs1555538825
NM_000049.4(ASPA):c.3G>T (p.Met1Ile) rs1597422213
NM_000049.4(ASPA):c.407del (p.Phe135_Leu136insTer) rs2543619949
NM_000049.4(ASPA):c.40del (p.Val14fs) rs2543606405
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg) rs104894548
NM_000049.4(ASPA):c.465T>G (p.Tyr155Ter) rs2543624449
NM_000049.4(ASPA):c.472G>T (p.Glu158Ter) rs2543624471
NM_000049.4(ASPA):c.527-2A>G rs778385612
NM_000049.4(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.4(ASPA):c.550C>T (p.Gln184Ter) rs1597439028
NM_000049.4(ASPA):c.609del (p.Asp204fs) rs1597439149
NM_000049.4(ASPA):c.610G>C (p.Asp204His) rs2543636344
NM_000049.4(ASPA):c.634+1G>A rs753871454
NM_000049.4(ASPA):c.635-1G>C rs2543647908
NM_000049.4(ASPA):c.635-2A>G rs2543647904
NM_000049.4(ASPA):c.654C>A (p.Cys218Ter) rs104894549
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly) rs104894551
NM_000049.4(ASPA):c.731A>T (p.His244Leu) rs1057516995
NM_000049.4(ASPA):c.744+1G>A rs2073877472
NM_000049.4(ASPA):c.868G>T (p.Glu290Ter) rs1331100491
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000049.4(ASPA):c.885dup (p.Ala296fs) rs2543658211
NM_000049.4(ASPA):c.892del (p.Thr298fs) rs2543658229
NM_000049.4(ASPA):c.896_899del (p.Thr299fs) rs2543658239

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