ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease recessive intermediate a by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=) rs368943246
NM_018972.4(GDAP1):c.120G>A (p.Val40=) rs1031865271
NM_018972.4(GDAP1):c.216C>T (p.Asn72=) rs760859999
NM_018972.4(GDAP1):c.21G>A (p.Glu7=) rs199612265
NM_018972.4(GDAP1):c.225A>G (p.Gly75=) rs761890773
NM_018972.4(GDAP1):c.310+6del rs780828430
NM_018972.4(GDAP1):c.310+8del rs1279865642
NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg) rs202010117
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782
NM_018972.4(GDAP1):c.474A>G (p.Thr158=) rs202215041
NM_018972.4(GDAP1):c.720C>T (p.Cys240=) rs367790253
NM_018972.4(GDAP1):c.72T>C (p.Val24=) rs142674939
NM_018972.4(GDAP1):c.744C>T (p.Asp248=) rs370099528
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910

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