ClinVar Miner

List of variants in gene MBD5 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.4505A>G (p.Tyr1502Cys) rs773873513 0.00004
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His) rs775673512 0.00004
NM_001378120.1(MBD5):c.1335G>C (p.Met445Ile) rs748835022 0.00003
NM_001378120.1(MBD5):c.2095A>C (p.Ser699Arg) rs774227790 0.00003
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) rs200985982 0.00003
NM_001378120.1(MBD5):c.4858G>A (p.Asp1620Asn) rs750381367 0.00003
NM_001378120.1(MBD5):c.3578A>G (p.Asn1193Ser) rs754193314 0.00002
NM_001378120.1(MBD5):c.1180G>A (p.Val394Ile) rs1411951713 0.00001
NM_001378120.1(MBD5):c.1618G>C (p.Ala540Pro) rs1169180874 0.00001
NM_001378120.1(MBD5):c.1639G>A (p.Gly547Arg) rs116235310 0.00001
NM_001378120.1(MBD5):c.1784C>T (p.Ala595Val) rs771275834 0.00001
NM_001378120.1(MBD5):c.2074G>A (p.Gly692Ser) rs983507514 0.00001
NM_001378120.1(MBD5):c.2140C>G (p.His714Asp) rs886054909 0.00001
NM_001378120.1(MBD5):c.2198C>T (p.Ser733Phe) rs1438163020 0.00001
NM_001378120.1(MBD5):c.2288A>G (p.Asn763Ser) rs1294270968 0.00001
NM_001378120.1(MBD5):c.2828A>G (p.Gln943Arg) rs377062993 0.00001
NM_001378120.1(MBD5):c.4466G>A (p.Gly1489Glu) rs773267074 0.00001
NM_001378120.1(MBD5):c.643C>T (p.Arg215Cys) rs777516937 0.00001
NM_001378120.1(MBD5):c.1016C>A (p.Pro339His)
NM_001378120.1(MBD5):c.1027T>C (p.Ser343Pro)
NM_001378120.1(MBD5):c.1165G>A (p.Val389Ile) rs2105629940
NM_001378120.1(MBD5):c.1221C>T (p.Leu407=)
NM_001378120.1(MBD5):c.1241C>T (p.Pro414Leu)
NM_001378120.1(MBD5):c.1291T>C (p.Ser431Pro)
NM_001378120.1(MBD5):c.1379C>T (p.Ser460Leu) rs878910680
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr) rs1024254683
NM_001378120.1(MBD5):c.1966T>A (p.Leu656Met)
NM_001378120.1(MBD5):c.1991C>T (p.Thr664Met) rs755862882
NM_001378120.1(MBD5):c.2794C>T (p.His932Tyr) rs1574477133
NM_001378120.1(MBD5):c.2837C>A (p.Ala946Glu)
NM_001378120.1(MBD5):c.3043C>A (p.Leu1015Ile)
NM_001378120.1(MBD5):c.3731C>T (p.Ala1244Val)
NM_001378120.1(MBD5):c.3865C>T (p.Pro1289Ser)
NM_001378120.1(MBD5):c.4124C>A (p.Ala1375Glu)
NM_001378120.1(MBD5):c.4352A>C (p.His1451Pro)
NM_001378120.1(MBD5):c.4516A>G (p.Met1506Val) rs898923113
NM_001378120.1(MBD5):c.606A>G (p.Arg202=)
NM_001378120.1(MBD5):c.753AAG[1] (p.Arg252del)
NM_001378120.1(MBD5):c.842A>G (p.His281Arg) rs1680680479
NM_001378120.1(MBD5):c.923C>T (p.Pro308Leu)
NM_001378120.1(MBD5):c.992A>C (p.Lys331Thr)
NM_001378120.1(MBD5):c.997C>T (p.Pro333Ser)

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