ClinVar Miner

List of variants in gene MFAP5 reported as uncertain significance by GeneDx

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003480.4(MFAP5):c.12G>A (p.Leu4=) rs148879406 0.00053
NM_003480.4(MFAP5):c.251G>A (p.Cys84Tyr) rs747879550 0.00003
NM_003480.4(MFAP5):c.340C>T (p.Arg114Ter) rs376830567 0.00003
NM_003480.4(MFAP5):c.395A>T (p.His132Leu) rs374890052 0.00002
NM_003480.4(MFAP5):c.376C>T (p.Arg126Cys) rs540639689 0.00001
NM_003480.4(MFAP5):c.106C>T (p.Gln36Ter) rs1555139286
NM_003480.4(MFAP5):c.217+1G>T rs1193130977

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