List of variants in gene DPM2 reported as uncertain significance for congenital muscular dystrophy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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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	0.00003
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.197-9_197-8insA	rs1314437874	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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