ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2B2

Included ClinVar conditions (3):
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_007254.4(PNKP):c.636+7G>A rs3739187 0.00154
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_007254.4(PNKP):c.1549C>T (p.Gln517Ter) rs774995635 0.00019
NM_007254.4(PNKP):c.290A>G (p.Asn97Ser) rs140290151 0.00019
NM_030973.4(MED25):c.1438C>G (p.Leu480Val) rs148214958 0.00011
NM_007254.4(PNKP):c.1009G>C (p.Glu337Gln) rs780121125 0.00006
NM_007254.4(PNKP):c.1177C>T (p.His393Tyr) rs772610025 0.00004
NM_007254.4(PNKP):c.636+1G>T rs1247055716 0.00004
NM_007254.4(PNKP):c.499-7A>C rs909512959 0.00001
NM_007254.4(PNKP):c.625G>A (p.Glu209Lys) rs773641701 0.00001
NM_030973.4(MED25):c.316G>A (p.Gly106Arg) rs147136530 0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) rs775622130 0.00001
NM_030973.4(MED25):c.949G>T (p.Gly317Cys) rs1280659782 0.00001
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1316G>A (p.Arg439Gln)
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007254.4(PNKP):c.1391G>C (p.Arg464Pro) rs377619541
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.4(PNKP):c.58C>A (p.Pro20Thr) rs3739168
NM_007254.4(PNKP):c.637-1G>C
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter) rs982113263
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs) rs770792425
NM_030973.4(MED25):c.633A>T (p.Thr211=) rs369117035

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