ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 4B3 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232 0.05085
NM_002972.4(SBF1):c.3006C>T (p.Asp1002=) rs77064034 0.01961
NM_002972.4(SBF1):c.55+9C>T rs184600817 0.01375
NM_002972.4(SBF1):c.5539A>G (p.Thr1847Ala) rs192771726 0.01139
NM_002972.4(SBF1):c.2127+4C>T rs151027707 0.01090
NM_002972.4(SBF1):c.4368+17G>A rs116526390 0.01026
NM_002972.4(SBF1):c.3818G>A (p.Gly1273Asp) rs147879775 0.01020
NM_002972.4(SBF1):c.1570A>T (p.Met524Leu) rs149528827 0.00850
NM_002972.4(SBF1):c.3827-4T>C rs114603288 0.00786
NM_002972.4(SBF1):c.56-5C>T rs79658113 0.00784
NM_002972.4(SBF1):c.4267-15C>T rs115969873 0.00701
NM_002972.4(SBF1):c.2712G>C (p.Leu904=) rs114880473 0.00694
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974 0.00612
NM_002972.4(SBF1):c.296A>C (p.Glu99Ala) rs148021361 0.00573
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708 0.00425
NM_002972.4(SBF1):c.4813-18C>T rs41281541 0.00348
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140 0.00247
NM_002972.4(SBF1):c.3904+5C>G rs115032856 0.00233
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206 0.00205
NM_002972.4(SBF1):c.1056G>A (p.Pro352=) rs145862488

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