ClinVar Miner

List of variants in gene MYPN reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.65C>G (p.Ala22Gly) rs145142157 0.00096
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser) rs550455783 0.00006
NM_032578.4(MYPN):c.2507C>T (p.Ser836Phe) rs376141715 0.00006
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met) rs750655311 0.00006
NM_032578.4(MYPN):c.1225C>T (p.Arg409Cys) rs757431496 0.00001
NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro) rs876657921 0.00001
NM_032578.4(MYPN):c.3156C>T (p.His1052=) rs876657923 0.00001
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro) rs529359915 0.00001
NM_032578.4(MYPN):c.1132A>C (p.Ile378Leu) rs1554842686
NM_032578.4(MYPN):c.1741G>C (p.Val581Leu) rs1464184643
NM_032578.4(MYPN):c.2443A>G (p.Ile815Val) rs876657922
NM_032578.4(MYPN):c.2756G>A (p.Arg919His) rs193022869
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.54G>C (p.Glu18Asp) rs876657919
NM_032578.4(MYPN):c.637A>G (p.Ile213Val) rs199476402
NM_032578.4(MYPN):c.785A>G (p.Glu262Gly) rs876657924
NM_032578.4(MYPN):c.893C>T (p.Pro298Leu) rs2042258631
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457

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