ClinVar Miner

List of variants reported as likely pathogenic for Hereditary spastic paraplegia 31 by Solve-RD Consortium

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 2p11.2(chr2:86459682-86509481)x3
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter)	rs1558898568
NM_001371279.1(REEP1):c.32+1G>T	rs1681105619

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