ClinVar Miner

List of variants in gene DYNC2H1 reported as likely pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NC_000011.9:g.(?_103173802)_(103187369_?)del
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657
NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter) rs1565438488
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983
NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg) rs886039812
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321
NM_001377.3(DYNC2H1):c.4379-1G>C rs1555052497
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862
NM_001377.3(DYNC2H1):c.6347+1G>A rs1565371538
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) rs1332318318
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534
NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys) rs1384888093
NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser) rs1565394086
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001377.3(DYNC2H1):c.9820-2A>G rs864622111

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