ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln) rs782021521 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_003172.4(SURF1):c.808_822dup (p.Glu270_Tyr274dup) rs782788600
NM_024577.4(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.4(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781

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