ClinVar Miner

List of variants in gene MMUT reported as likely pathogenic for not provided

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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_000255.3(MMUT):c.1108A>C (p.Thr370Pro) rs368790885
NM_000255.3(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.3(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.3(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.3(MMUT):c.295A>G (p.Met99Val) rs1467385866
NM_000255.3(MMUT):c.372_374dupGGA (p.Lys124_Asp125insGlu) rs796052009
NM_000255.3(MMUT):c.410C>G (p.Ala137Gly) rs941483851
NM_000255.3(MMUT):c.571G>A (p.Ala191Thr) rs1313120333
NM_000255.3(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.3(MMUT):c.917C>A (p.Ser306Tyr) rs1085307929
NM_000255.3(MMUT):c.976A>G (p.Arg326Gly) rs1085308002
NM_000255.4(MMUT):c.1889G>C (p.Gly630Ala)
NM_000255.4(MMUT):c.567T>G (p.Asn189Lys)

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