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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 87

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HGVS	dbSNP	gnomAD frequency
NM_015214.3(DDHD2):c.1127A>G (p.Asp376Gly)	rs148664622	0.00300
NM_015214.3(DDHD2):c.864A>C (p.Ile288=)	rs148904419	0.00036
NM_015214.3(DDHD2):c.558G>A (p.Thr186=)	rs149994413	0.00029
NM_015214.3(DDHD2):c.1982A>G (p.Tyr661Cys)	rs201656753	0.00027
NM_015214.3(DDHD2):c.502-9C>T	rs375704564	0.00023
NM_015214.3(DDHD2):c.1575C>T (p.Tyr525=)	rs139004425	0.00017
NM_015214.3(DDHD2):c.393C>G (p.Ser131Arg)	rs201121892	0.00014
NM_015214.3(DDHD2):c.899C>T (p.Thr300Ile)	rs200249745	0.00014
NM_015214.3(DDHD2):c.930C>T (p.Tyr310=)	rs200317856	0.00014
NM_015214.3(DDHD2):c.1058-13A>G	rs371362810	0.00010
NM_015214.3(DDHD2):c.1125+20A>C	rs370899112	0.00010
NM_015214.3(DDHD2):c.277T>C (p.Leu93=)	rs544728429	0.00009
NM_015214.3(DDHD2):c.1386C>T (p.Asn462=)	rs137874590	0.00008
NM_015214.3(DDHD2):c.1131G>A (p.Ser377=)	rs138763105	0.00004
NM_015214.3(DDHD2):c.221-9C>T	rs746277193	0.00004
NM_015214.3(DDHD2):c.1009A>C (p.Arg337=)	rs778628163	0.00003
NM_015214.3(DDHD2):c.2055-5T>C	rs777076814	0.00003
NM_015214.3(DDHD2):c.335G>A (p.Arg112Gln)	rs781089161	0.00003
NM_015214.3(DDHD2):c.849-20A>C	rs766574314	0.00003
NM_015214.3(DDHD2):c.1023C>T (p.Phe341=)	rs372428685	0.00002
NM_015214.3(DDHD2):c.267T>C (p.Tyr89=)	rs1206039082	0.00002
NM_015214.3(DDHD2):c.1095A>G (p.Lys365=)	rs1805628293	0.00001
NM_015214.3(DDHD2):c.1126-13A>G	rs759750987	0.00001
NM_015214.3(DDHD2):c.1618-6A>T	rs745477461	0.00001
NM_015214.3(DDHD2):c.1662A>G (p.Gly554=)	rs929696583	0.00001
NM_015214.3(DDHD2):c.1720+9G>A	rs745620727	0.00001
NM_015214.3(DDHD2):c.1779G>A (p.Ser593=)	rs751112891	0.00001
NM_015214.3(DDHD2):c.1869A>G (p.Glu623=)	rs775739636	0.00001
NM_015214.3(DDHD2):c.1923T>G (p.Val641=)	rs958442410	0.00001
NM_015214.3(DDHD2):c.1938G>T (p.Leu646=)	rs767484541	0.00001
NM_015214.3(DDHD2):c.2103C>T (p.Thr701=)	rs1029545577	0.00001
NM_015214.3(DDHD2):c.876C>T (p.Ser292=)	rs780244159	0.00001
NM_015214.3(DDHD2):c.1058-16_1058-14del
NM_015214.3(DDHD2):c.1058-17T>C
NM_015214.3(DDHD2):c.1155A>G (p.Gly385=)
NM_015214.3(DDHD2):c.1176A>G (p.Glu392=)
NM_015214.3(DDHD2):c.1249-20A>G
NM_015214.3(DDHD2):c.1299A>G (p.Pro433=)
NM_015214.3(DDHD2):c.1305G>A (p.Lys435=)	rs372509717
NM_015214.3(DDHD2):c.1317C>T (p.Asn439=)	rs1183091304
NM_015214.3(DDHD2):c.1344+15C>T
NM_015214.3(DDHD2):c.1345-18C>T
NM_015214.3(DDHD2):c.1365G>C (p.Pro455=)
NM_015214.3(DDHD2):c.1404G>A (p.Glu468=)
NM_015214.3(DDHD2):c.1462-10C>T
NM_015214.3(DDHD2):c.1462-19T>C
NM_015214.3(DDHD2):c.1462-7del
NM_015214.3(DDHD2):c.1518A>T (p.Gly506=)
NM_015214.3(DDHD2):c.1587G>C (p.Thr529=)	rs141814412
NM_015214.3(DDHD2):c.1618-11T>C
NM_015214.3(DDHD2):c.1618-6A>G	rs745477461
NM_015214.3(DDHD2):c.1618-9C>T	rs1189542712
NM_015214.3(DDHD2):c.1720+18A>C
NM_015214.3(DDHD2):c.1721-11A>G
NM_015214.3(DDHD2):c.1770G>A (p.Leu590=)
NM_015214.3(DDHD2):c.1773A>G (p.Leu591=)
NM_015214.3(DDHD2):c.1783C>A (p.Arg595=)
NM_015214.3(DDHD2):c.1891+19A>G
NM_015214.3(DDHD2):c.1891+20T>C
NM_015214.3(DDHD2):c.1892-16G>T
NM_015214.3(DDHD2):c.2004T>C (p.Ile668=)	rs2130855859
NM_015214.3(DDHD2):c.2054+10_2054+12del	rs765220738
NM_015214.3(DDHD2):c.2055-17A>T
NM_015214.3(DDHD2):c.2055-6_2055-5del	rs2130888276
NM_015214.3(DDHD2):c.2070A>G (p.Thr690=)
NM_015214.3(DDHD2):c.2079C>T (p.Leu693=)
NM_015214.3(DDHD2):c.2124G>A (p.Gln708=)	rs1585775142
NM_015214.3(DDHD2):c.220+18C>T	rs2130733689
NM_015214.3(DDHD2):c.220+20T>G
NM_015214.3(DDHD2):c.221-19C>T
NM_015214.3(DDHD2):c.321A>G (p.Ala107=)
NM_015214.3(DDHD2):c.342G>A (p.Thr114=)	rs774309381
NM_015214.3(DDHD2):c.390G>A (p.Glu130=)
NM_015214.3(DDHD2):c.412-11T>G
NM_015214.3(DDHD2):c.453G>A (p.Lys151=)
NM_015214.3(DDHD2):c.502-19C>A
NM_015214.3(DDHD2):c.502-7G>T
NM_015214.3(DDHD2):c.540T>C (p.Asp180=)
NM_015214.3(DDHD2):c.612C>T (p.Asp204=)	rs2130772829
NM_015214.3(DDHD2):c.618T>C (p.His206=)
NM_015214.3(DDHD2):c.622+13G>A
NM_015214.3(DDHD2):c.699C>T (p.Ser233=)	rs560050475
NM_015214.3(DDHD2):c.825T>G (p.Pro275=)	rs2130795209
NM_015214.3(DDHD2):c.849-16T>C
NM_015214.3(DDHD2):c.868C>T (p.Leu290=)
NM_015214.3(DDHD2):c.966A>G (p.Thr322=)
NM_015214.3(DDHD2):c.996A>G (p.Thr332=)	rs2130812808

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