ClinVar Miner

List of variants in gene FH studied for Inborn genetic diseases

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000143.4(FH):c.110G>C (p.Trp37Ser) rs1660318244
NM_000143.4(FH):c.1391-6C>G
NM_000143.4(FH):c.202T>C (p.Tyr68His) rs1189016440
NM_000143.4(FH):c.268A>G (p.Thr90Ala)
NM_000143.4(FH):c.485T>C (p.Ile162Thr)
NM_000143.4(FH):c.4T>A (p.Tyr2Asn) rs112335468
NM_000143.4(FH):c.634C>T (p.Gln212Ter) rs1553341353

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