ClinVar Miner

Variants in gene combination ASPA, SPATA22 with conflicting interpretations reported as "pathogenic and "likely pathogenic"

Submission 1 (pathogenic) minimum review status: Submission 1 (pathogenic) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 35
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HGVS dbSNP gnomAD frequency
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.746A>T (p.Asp249Val) rs104894552 0.00006
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00004
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.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.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
NM_000049.4(ASPA):c.101G>A (p.Trp34Ter) rs2150741763
NM_000049.4(ASPA):c.147dup (p.Pro50fs) rs1597422432
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.283G>T (p.Glu95Ter)
NM_000049.4(ASPA):c.321_322del (p.Ser108fs) rs1289890879
NM_000049.4(ASPA):c.32del (p.Ile11fs) rs767666474
NM_000049.4(ASPA):c.340G>T (p.Asp114Tyr) rs1446467099
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.541C>A (p.Pro181Thr) rs786204572
NM_000049.4(ASPA):c.548C>A (p.Pro183His) rs1555539857
NM_000049.4(ASPA):c.580C>T (p.Gln194Ter) rs1482032907
NM_000049.4(ASPA):c.609del (p.Asp204fs) rs1597439149
NM_000049.4(ASPA):c.71A>G (p.Glu24Gly) rs104894551
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.885dup (p.Ala296fs)

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