ClinVar Miner

List of variants in gene MMUT reported as uncertain significance by Invitae

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Gene type:
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Total variants: 15
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HGVS dbSNP
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys)
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln)
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr)
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr)
NM_000255.4(MMUT):c.292A>C (p.Thr98Pro)
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu)
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser)
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer)
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282

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