List of variants in gene DDHD2 reported as likely pathogenic for complex hereditary spastic paraplegia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	rs375168720	0.00006
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys)	rs1380005347	0.00002
NM_015214.3(DDHD2):c.1248+2T>C	rs753950471	0.00001
NM_015214.3(DDHD2):c.859C>T (p.Arg287Ter)	rs398122826	0.00001
NM_015214.3(DDHD2):c.1126-2A>G	rs2130822605
NM_015214.3(DDHD2):c.1217_1218del (p.Ile405_Phe406insTer)
NM_015214.3(DDHD2):c.1617+1G>T
NM_015214.3(DDHD2):c.1887_1890dup (p.Asp631Ter)
NM_015214.3(DDHD2):c.1901delinsTCTGTGGCAGTTAA (p.Thr634delinsIleCysGlySerTer)

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