List of variants in gene DRC1 reported as pathogenic by Invitae

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter)	rs142371860	0.00031
NM_145038.5(DRC1):c.344dup (p.Arg117fs)	rs747358703	0.00002
NM_145038.5(DRC1):c.732G>A (p.Trp244Ter)	rs371220148	0.00001
NC_000002.11:g.(?_26624858)_(26647342_?)del
NC_000002.11:g.(?_26667070)_(26667836_?)del
NC_000002.12:g.(?_26440358)_(26444376_?)del
NM_145038.5(DRC1):c.1009C>T (p.Gln337Ter)	rs1435637520
NM_145038.5(DRC1):c.1013del (p.Lys338fs)
NM_145038.5(DRC1):c.109dup (p.Gln37fs)	rs750136163
NM_145038.5(DRC1):c.1325del (p.Asn442fs)	rs1663812465
NM_145038.5(DRC1):c.1471del (p.Thr491fs)	rs2148003690
NM_145038.5(DRC1):c.391C>T (p.Gln131Ter)
NM_145038.5(DRC1):c.427G>T (p.Glu143Ter)	rs1663226917
NM_145038.5(DRC1):c.673dup (p.Ile225fs)	rs1663384249

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