List of variants in gene MACF1 reported by Dobyns Lab, Seattle Children's Research Institute

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001394062.1(MACF1):c.22313G>A (p.Arg7438Gln)	rs1218844508	0.00001
NM_001394062.1(MACF1):c.20293G>C (p.Gly6765Arg)	rs1488808726
NM_001394062.1(MACF1):c.21707G>T (p.Cys7236Phe)	rs1557668270
NM_001394062.1(MACF1):c.21877G>T (p.Asp7293Tyr)	rs1557670503
NM_001394062.1(MACF1):c.21883T>G (p.Cys7295Gly)	rs1557670515
NM_001394062.1(MACF1):c.21884G>T (p.Cys7295Phe)	rs1557670520
NM_012090.5(MACF1):c.10617+444_15577-288del

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