ClinVar Miner

List of variants in gene GDAP1 reported as likely benign for Charcot-Marie-Tooth disease recessive intermediate A

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.*2408G>A rs11996204 0.02523
NM_018972.4(GDAP1):c.*1162T>C rs113017051 0.00611
NM_018972.4(GDAP1):c.*723G>A rs116863614 0.00512
NM_018972.4(GDAP1):c.*1819T>C rs141157275 0.00466
NM_018972.4(GDAP1):c.*1006C>T rs145523828 0.00367
NM_018972.4(GDAP1):c.310+6del rs780828430 0.00109
NM_018972.4(GDAP1):c.459G>A (p.Pro153=) rs149804782 0.00057
NM_018972.4(GDAP1):c.474A>G (p.Thr158=) rs202215041 0.00052
NM_018972.4(GDAP1):c.*1701T>C rs781146378 0.00025
NM_018972.4(GDAP1):c.840C>T (p.Tyr280=) rs374624466 0.00014
NM_018972.4(GDAP1):c.965C>T (p.Thr322Met) rs199529910 0.00012
NM_018972.4(GDAP1):c.594T>C (p.Asp198=) rs565901784 0.00011
NM_018972.4(GDAP1):c.744C>T (p.Asp248=) rs370099528 0.00011
NM_018972.4(GDAP1):c.894T>C (p.Asn298=) rs756599272 0.00009
NM_018972.4(GDAP1):c.720C>T (p.Cys240=) rs367790253 0.00006
NM_018972.4(GDAP1):c.810C>T (p.Asn270=) rs144111413 0.00006
NM_018972.4(GDAP1):c.885T>C (p.His295=) rs752758036 0.00006
NM_018972.4(GDAP1):c.1045T>C (p.Leu349=) rs368943246 0.00004
NM_018972.4(GDAP1):c.579+9A>G rs768849850 0.00004
NM_018972.4(GDAP1):c.165T>C (p.Asp55=) rs138538469 0.00002
NM_018972.4(GDAP1):c.513G>A (p.Leu171=) rs778079435 0.00002
NM_018972.4(GDAP1):c.915G>T (p.Leu305=) rs745516657 0.00002
NM_018972.4(GDAP1):c.120G>A (p.Val40=) rs1031865271 0.00001
NM_018972.4(GDAP1):c.216C>T (p.Asn72=) rs760859999 0.00001
NM_018972.4(GDAP1):c.225A>G (p.Gly75=) rs761890773 0.00001
NM_018972.4(GDAP1):c.311-15G>A rs373622064 0.00001
NM_018972.4(GDAP1):c.471T>G (p.Thr157=) rs886293648 0.00001
NM_018972.4(GDAP1):c.485-6T>C rs763802909 0.00001
NM_018972.4(GDAP1):c.753C>T (p.Leu251=) rs1285748573 0.00001
NM_018972.4(GDAP1):c.846T>A (p.Arg282=) rs751766713 0.00001
NM_018972.4(GDAP1):c.864A>G (p.Thr288=) rs1452402318 0.00001
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1639A>T rs145245478
NM_018972.4(GDAP1):c.118-15T>C
NM_018972.4(GDAP1):c.118-16G>A rs757760120
NM_018972.4(GDAP1):c.118-7C>G
NM_018972.4(GDAP1):c.118-9C>A
NM_018972.4(GDAP1):c.243C>T (p.Ile81=) rs2131496261
NM_018972.4(GDAP1):c.310+20C>G
NM_018972.4(GDAP1):c.310+8del rs1279865642
NM_018972.4(GDAP1):c.311-11G>A
NM_018972.4(GDAP1):c.311-6T>C
NM_018972.4(GDAP1):c.357A>G (p.Pro119=) rs2131512519
NM_018972.4(GDAP1):c.360G>A (p.Arg120=)
NM_018972.4(GDAP1):c.387C>T (p.Asp129=)
NM_018972.4(GDAP1):c.391T>C (p.Leu131=)
NM_018972.4(GDAP1):c.405C>T (p.Ala135=) rs763427538
NM_018972.4(GDAP1):c.408T>C (p.Tyr136=) rs766998162
NM_018972.4(GDAP1):c.450C>T (p.Ser150=) rs752334269
NM_018972.4(GDAP1):c.456C>T (p.Ile152=)
NM_018972.4(GDAP1):c.480T>A (p.Ile160=) rs1586803400
NM_018972.4(GDAP1):c.484+19G>A
NM_018972.4(GDAP1):c.484+20A>G
NM_018972.4(GDAP1):c.484+6_484+19dup
NM_018972.4(GDAP1):c.485-17A>C
NM_018972.4(GDAP1):c.492T>C (p.Ile164=) rs1809382139
NM_018972.4(GDAP1):c.531A>G (p.Glu177=) rs1809386519
NM_018972.4(GDAP1):c.543A>G (p.Leu181=) rs779132911
NM_018972.4(GDAP1):c.571C>A (p.Arg191=) rs1554547986
NM_018972.4(GDAP1):c.580-15T>C
NM_018972.4(GDAP1):c.618G>A (p.Lys206=)
NM_018972.4(GDAP1):c.633G>A (p.Glu211=) rs2131519229
NM_018972.4(GDAP1):c.666A>G (p.Glu222=)
NM_018972.4(GDAP1):c.672A>G (p.Gln224=)
NM_018972.4(GDAP1):c.694+8C>A
NM_018972.4(GDAP1):c.695-19T>C
NM_018972.4(GDAP1):c.695-20A>G
NM_018972.4(GDAP1):c.756T>C (p.Ala252=)
NM_018972.4(GDAP1):c.763T>C (p.Leu255=) rs2131521525
NM_018972.4(GDAP1):c.834C>G (p.Thr278=) rs2131521778
NM_018972.4(GDAP1):c.837T>C (p.Tyr279=) rs1309093739
NM_018972.4(GDAP1):c.912G>T (p.Val304=)
NM_018972.4(GDAP1):c.913C>T (p.Leu305=)
NM_018972.4(GDAP1):c.921A>C (p.Thr307=)
NM_018972.4(GDAP1):c.921A>G (p.Thr307=)
NM_018972.4(GDAP1):c.930G>A (p.Arg310=)
NM_018972.4(GDAP1):c.942A>G (p.Lys314=) rs771751303
NM_018972.4(GDAP1):c.951A>C (p.Pro317=)
NM_018972.4(GDAP1):c.966G>A (p.Thr322=)
NM_018972.4(GDAP1):c.966G>C (p.Thr322=)
NM_018972.4(GDAP1):c.975G>A (p.Val325=)
NM_018972.4(GDAP1):c.975G>T (p.Val325=)

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