List of variants in gene DYNC1H1 reported as likely pathogenic for Lissencephaly

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001376.5(DYNC1H1):c.10030C>T (p.Arg3344Trp)	rs2048519381
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)	rs397509412
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro)	rs797045529
NM_001376.5(DYNC1H1):c.11311G>A (p.Glu3771Lys)	rs2048611744
NM_001376.5(DYNC1H1):c.11941+2T>A	rs1595630836
NM_001376.5(DYNC1H1):c.1706G>C (p.Arg569Pro)	rs797045178
NM_001376.5(DYNC1H1):c.2003T>A (p.Val668Asp)	rs2047935205
NM_001376.5(DYNC1H1):c.2321T>C (p.Leu774Pro)	rs2047938879
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)	rs1064796765
NM_001376.5(DYNC1H1):c.7813_7815del (p.Leu2605del)	rs2048330550
NM_001376.5(DYNC1H1):c.915A>T (p.Lys305Asn)	rs1566996726
NM_001376.5(DYNC1H1):c.926G>A (p.Arg309His)	rs797045177

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