ClinVar Miner

List of variants in gene DPM2 reported as uncertain significance for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_003863.3(DPM2):c.-587C>T rs566910080 0.00077
NM_003863.3(DPM2):c.-429G>T rs192275912 0.00064
NM_003863.3(DPM2):c.*627C>T rs544907409 0.00061
NM_003863.4(DPM2):c.*553G>A rs886063480 0.00038
NM_003863.3(DPM2):c.-612G>C rs886063487 0.00024
NM_003863.3(DPM2):c.-523C>A rs1010662067 0.00019
NM_003863.3(DPM2):c.*632T>C rs371958283 0.00015
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr) rs147263320 0.00015
NM_003863.4(DPM2):c.197-5C>T rs886063482 0.00005
NM_003863.4(DPM2):c.74C>G (p.Thr25Ser) rs1026866240 0.00005
NM_003863.4(DPM2):c.146A>G (p.Tyr49Cys) rs779093563 0.00004
NM_003863.4(DPM2):c.*14A>T rs1352343761 0.00001
NM_003863.4(DPM2):c.*529G>A rs926580610 0.00001
NM_003863.4(DPM2):c.107G>A (p.Ser36Asn) rs771463310 0.00001
NM_003863.4(DPM2):c.124A>G (p.Lys42Glu) rs370170911 0.00001
NM_003863.4(DPM2):c.127T>C (p.Tyr43His) rs1275174624 0.00001
NM_003863.4(DPM2):c.145T>A (p.Tyr49Asn) rs755055369 0.00001
NM_003863.4(DPM2):c.184C>G (p.Leu62Val) rs766817693 0.00001
NM_003863.4(DPM2):c.208T>G (p.Ser70Ala) rs759597928 0.00001
NM_003863.3(DPM2):c.-319G>A rs886063486
NM_003863.4(DPM2):c.*124G>C rs1831491179
NM_003863.4(DPM2):c.*231C>T rs1831489245
NM_003863.4(DPM2):c.*404C>T rs1245531633
NM_003863.4(DPM2):c.*49G>T rs886063481
NM_003863.4(DPM2):c.*510A>G rs1831485679
NM_003863.4(DPM2):c.100A>G (p.Ile34Val)
NM_003863.4(DPM2):c.108_111del (p.Gln37fs) rs756881158
NM_003863.4(DPM2):c.151G>A (p.Val51Ile) rs1831509385
NM_003863.4(DPM2):c.166_167delinsTT (p.Ala56Phe) rs2131648142
NM_003863.4(DPM2):c.16G>A (p.Asp6Asn) rs1564141716
NM_003863.4(DPM2):c.208T>C (p.Ser70Pro) rs759597928
NM_003863.4(DPM2):c.212A>G (p.Tyr71Cys)
NM_003863.4(DPM2):c.212_213delinsGC (p.Tyr71Cys) rs1588689182
NM_003863.4(DPM2):c.213_214inv (p.Val72Met)
NM_003863.4(DPM2):c.229A>G (p.Lys77Glu) rs1831494309
NM_003863.4(DPM2):c.35G>A (p.Gly12Asp) rs1224529806
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)
NM_003863.4(DPM2):c.88C>G (p.Leu30Val) rs886063483
NM_003863.4(DPM2):c.8C>T (p.Thr3Met)
NM_003863.4(DPM2):c.93+5G>A

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