List of variants reported as pathogenic for Spongy degeneration of central nervous system by Invitae

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 76

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HGVS	dbSNP	gnomAD frequency
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)	rs144321760	0.00071
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)	rs28940279	0.00028
NM_000049.4(ASPA):c.212G>A (p.Arg71His)	rs104894553	0.00015
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)	rs28940574	0.00015
NM_000049.4(ASPA):c.746A>T (p.Asp249Val)	rs104894552	0.00006
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg)	rs766328537	0.00004
NM_000049.4(ASPA):c.820G>A (p.Gly274Arg)	rs761064915	0.00002
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)	rs779440632	0.00001
NM_000049.4(ASPA):c.2T>C (p.Met1Thr)	rs1057516879	0.00001
NM_000049.4(ASPA):c.368G>A (p.Gly123Glu)	rs1057521115	0.00001
NM_000049.4(ASPA):c.426C>A (p.Tyr142Ter)	rs1380839164	0.00001
NM_000049.4(ASPA):c.47T>C (p.Ile16Thr)	rs769653717	0.00001
NM_000049.4(ASPA):c.503G>A (p.Arg168His)	rs770706390	0.00001
NM_000049.4(ASPA):c.634+1G>T	rs753871454	0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser)	rs750505963	0.00001
NM_000049.4(ASPA):c.859G>A (p.Ala287Thr)	rs774323189	0.00001
NC_000017.10:g.(?_3379444)_(3379699_?)del
NC_000017.10:g.(?_3379444)_(3402392_?)del
NC_000017.10:g.(?_3379454)_(3385112_?)del
NC_000017.10:g.(?_3379454)_(3819519_?)del
NC_000017.10:g.(?_3384887)_(3386896_?)del
NC_000017.10:g.(?_3392509)_(3571820_?)del
NC_000017.10:g.(?_3392519)_(3397763_?)del
NC_000017.10:g.(?_3392519)_(3564038_?)del
NC_000017.10:g.(?_3397634)_(3397763_?)del
NC_000017.10:g.(?_3402175)_(3402392_?)del
NC_000017.11:g.(?_3489225)_(3499098_?)del
NC_000017.11:g.(?_3489235)_(3729555_?)del
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter)	rs2150741763
NM_000049.4(ASPA):c.102G>A (p.Trp34Ter)
NM_000049.4(ASPA):c.10delinsGG (p.Cys4fs)
NM_000049.4(ASPA):c.147dup (p.Pro50fs)	rs1597422432
NM_000049.4(ASPA):c.158del (p.Thr53fs)
NM_000049.4(ASPA):c.169G>A (p.Ala57Thr)
NM_000049.4(ASPA):c.209A>G (p.Asn70Ser)
NM_000049.4(ASPA):c.20_205del (p.Ala7_Leu69delinsVal)
NM_000049.4(ASPA):c.230dup (p.Asn77fs)	rs2150741916
NM_000049.4(ASPA):c.244_245del (p.Met82fs)	rs786204620
NM_000049.4(ASPA):c.244dup (p.Met82fs)	rs756198538
NM_000049.4(ASPA):c.245del (p.Met82fs)	rs1057516962
NM_000049.4(ASPA):c.25G>T (p.Glu9Ter)
NM_000049.4(ASPA):c.264T>A (p.Tyr88Ter)
NM_000049.4(ASPA):c.27dup (p.His10fs)	rs2150741648
NM_000049.4(ASPA):c.283G>T (p.Glu95Ter)
NM_000049.4(ASPA):c.291del (p.His98fs)
NM_000049.4(ASPA):c.321_322del (p.Ser108fs)	rs1289890879
NM_000049.4(ASPA):c.325_328dup (p.Asp110delinsValTer)
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr)	rs1446467099
NM_000049.4(ASPA):c.342C>A (p.Asp114Glu)	rs2150746796
NM_000049.4(ASPA):c.347_348insAA (p.His116fs)
NM_000049.4(ASPA):c.34C>T (p.Gln12Ter)	rs2150741666
NM_000049.4(ASPA):c.3G>A (p.Met1Ile)
NM_000049.4(ASPA):c.434del (p.Thr145fs)
NM_000049.4(ASPA):c.454T>C (p.Cys152Arg)	rs104894548
NM_000049.4(ASPA):c.456_459del (p.Cys152fs)
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys)	rs937670540
NM_000049.4(ASPA):c.530T>C (p.Ile177Thr)	rs1597438977
NM_000049.4(ASPA):c.532_533dup (p.Val179fs)
NM_000049.4(ASPA):c.541C>A (p.Pro181Thr)	rs786204572
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.557T>A (p.Val186Asp)
NM_000049.4(ASPA):c.577del (p.Asp193fs)
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter)	rs1482032907
NM_000049.4(ASPA):c.609del (p.Asp204fs)	rs1597439149
NM_000049.4(ASPA):c.610G>C (p.Asp204His)
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.734del (p.Pro245fs)
NM_000049.4(ASPA):c.80del (p.Gly27fs)
NM_000049.4(ASPA):c.827_828del (p.Cys276fs)	rs1057517085
NM_000049.4(ASPA):c.831del (p.Val278fs)	rs1555541304
NM_000049.4(ASPA):c.876_879del (p.Glu293fs)	rs766720790
NM_000049.4(ASPA):c.877_878del (p.Glu293fs)	rs2150764223
NM_000049.4(ASPA):c.885dup (p.Ala296fs)
NM_000049.4(ASPA):c.88C>G (p.Leu30Val)

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