ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type 4B1

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_016156.5(MTMR2):c.*1150C>T rs886048766
NM_016156.5(MTMR2):c.*133C>G rs367677499
NM_016156.5(MTMR2):c.*1425A>G rs886048764
NM_016156.5(MTMR2):c.*1822T>G rs562826516
NM_016156.5(MTMR2):c.*1826C>A rs145394232
NM_016156.5(MTMR2):c.*190G>A rs886048769
NM_016156.5(MTMR2):c.*2038C>G rs886048763
NM_016156.5(MTMR2):c.*207A>G rs185702937
NM_016156.5(MTMR2):c.*660G>A rs886048768
NM_016156.5(MTMR2):c.*679A>C rs776788118
NM_016156.5(MTMR2):c.*910T>A rs555290971
NM_016156.5(MTMR2):c.-222G>C rs746848952
NM_016156.5(MTMR2):c.-82C>T rs886048773
NM_016156.5(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467
NM_016156.5(MTMR2):c.1339G>A (p.Val447Ile) rs769693714
NM_016156.5(MTMR2):c.1431G>A (p.Ser477=) rs200285624
NM_016156.5(MTMR2):c.1551C>T (p.Phe517=) rs775961979
NM_016156.5(MTMR2):c.1843C>G (p.Gln615Glu) rs886048770
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_016156.5(MTMR2):c.212C>T (p.Ala71Val) rs886048772
NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) rs142155860
NM_016156.5(MTMR2):c.604C>G (p.Pro202Ala) rs186380748
NM_016156.5(MTMR2):c.655-8A>G rs768562214
NM_016156.5(MTMR2):c.80G>C (p.Ser27Thr) rs879253940
NM_016156.5(MTMR2):c.894A>T (p.Glu298Asp) rs200898934
NM_016156.6(MTMR2):c.*1036C>T
NM_016156.6(MTMR2):c.*1249G>A
NM_016156.6(MTMR2):c.*1271A>G
NM_016156.6(MTMR2):c.*1339T>G
NM_016156.6(MTMR2):c.*1656T>G
NM_016156.6(MTMR2):c.*2042G>C
NM_016156.6(MTMR2):c.*212A>C
NM_016156.6(MTMR2):c.*239A>T
NM_016156.6(MTMR2):c.*335T>C
NM_016156.6(MTMR2):c.*810C>G
NM_016156.6(MTMR2):c.*825G>A
NM_016156.6(MTMR2):c.-81G>A
NM_016156.6(MTMR2):c.-89C>G
NM_016156.6(MTMR2):c.162C>T (p.Ala54=)
NM_016156.6(MTMR2):c.23_24AG[1] (p.Leu10fs) rs1591060788
NM_016156.6(MTMR2):c.289T>A (p.Phe97Ile)

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