ClinVar Miner

List of variants studied for fumaric aciduria by 3billion, Medical Genetics

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000143.4(FH):c.580G>A (p.Ala194Thr)	rs587782215	0.00004
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	rs863224007	0.00001
NM_000143.4(FH):c.1108+1G>A	rs1057517734
NM_000143.4(FH):c.279T>G (p.Ile93Met)	rs2147923086
NM_000143.4(FH):c.664T>C (p.Ser222Pro)	rs1448268784

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