ClinVar Miner

List of variants in gene MYPN reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly) rs146336815 0.00014
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) rs730880170 0.00012
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His) rs372512501 0.00011
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp) rs555527385 0.00006
NM_032578.4(MYPN):c.3440T>A (p.Ile1147Asn) rs201600440 0.00006
NM_032578.4(MYPN):c.1013G>A (p.Arg338His) rs149852773 0.00003
NM_032578.4(MYPN):c.3653G>A (p.Arg1218Lys) rs768630077 0.00003
NM_032578.4(MYPN):c.1594G>A (p.Val532Met) rs760362375 0.00001
NM_032578.4(MYPN):c.207A>G (p.Gln69=) rs1488329353 0.00001
NM_032578.4(MYPN):c.3805C>T (p.His1269Tyr) rs746600159 0.00001
NM_032578.4(MYPN):c.713C>T (p.Ala238Val) rs2042253887 0.00001
NM_032578.4(MYPN):c.1102G>A (p.Gly368Ser)
NM_032578.4(MYPN):c.1102_1103delinsAA (p.Gly368Asn)
NM_032578.4(MYPN):c.1875C>G (p.Pro625=) rs2673793
NM_032578.4(MYPN):c.21A>C (p.Glu7Asp) rs759945622
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.2T>C (p.Met1Thr)
NM_032578.4(MYPN):c.3476T>A (p.Leu1159Gln) rs1422495386
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr) rs199476416
NM_032578.4(MYPN):c.3815C>T (p.Pro1272Leu) rs1554852276

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