ClinVar Miner

List of variants in gene combination GDAP1, LOC130000622 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.72T>C (p.Val24=) rs142674939 0.00010
NM_018972.4(GDAP1):c.33C>G (p.Ser11Arg) rs202010117 0.00007
NM_018972.4(GDAP1):c.39C>T (p.Pro13=) rs143063749 0.00004
NM_018972.4(GDAP1):c.21G>A (p.Glu7=) rs199612265 0.00003
NM_018972.4(GDAP1):c.117+10G>A rs371957814 0.00002
NM_018972.4(GDAP1):c.105C>T (p.Phe35=)
NM_018972.4(GDAP1):c.111T>G (p.Ser37=)
NM_018972.4(GDAP1):c.117+19G>A
NM_018972.4(GDAP1):c.39C>A (p.Pro13=)
NM_018972.4(GDAP1):c.45G>A (p.Arg15=) rs749658930
NM_018972.4(GDAP1):c.66G>A (p.Ala22=)
NM_018972.4(GDAP1):c.6T>C (p.Ala2=)
NM_018972.4(GDAP1):c.72T>G (p.Val24=) rs142674939
NM_018972.4(GDAP1):c.75G>A (p.Lys25=) rs761730309
NM_018972.4(GDAP1):c.96G>T (p.Thr32=)

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