Variants in gene SPG7 with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status:		Submission 2 (pathogenic) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 11

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HGVS	dbSNP	gnomAD frequency
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn)	rs769602042	0.00004
NM_003119.4(SPG7):c.2096dup (p.Met699fs)	rs747503698	0.00004
NM_003119.4(SPG7):c.637C>T (p.Arg213Ter)	rs774774648	0.00003
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln)	rs756535079	0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp)	rs1329063851	0.00001
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)	rs368373840
NM_003119.4(SPG7):c.1169T>C (p.Val390Ala)	rs2058357964
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn)	rs745444834
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met)	rs778387199
NM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)	rs373143136
NM_003119.4(SPG7):c.759-11_759-8del	rs758385553

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