ClinVar Miner

List of variants in gene DPM2 studied for congenital muscular dystrophy

Included ClinVar conditions (110):
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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_003863.3(DPM2):c.-628A>G rs3758327 0.79360
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_003863.3(DPM2):c.-382C>T rs112813338 0.01257
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_003863.4(DPM2):c.3+12A>G rs2274425 0.00262
NM_003863.4(DPM2):c.64A>G (p.Thr22Ala) rs7042788 0.00120
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.102C>T (p.Ile34=) rs777078287 0.00006
NM_003863.4(DPM2):c.3+14C>A rs375782774 0.00006
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.39C>G (p.Leu13=) rs757467123 0.00004
NM_003863.4(DPM2):c.94-19G>A rs760505582 0.00004
NM_003863.4(DPM2):c.94-9C>T rs373340697 0.00004
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.114T>C (p.His38=) rs1482824230 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.144C>T (p.Ala48=) rs779110103 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_003863.4(DPM2):c.33C>T (p.Leu11=) rs781596486 0.00001
NM_003863.4(DPM2):c.93+13C>A rs772691262 0.00001
NM_003863.4(DPM2):c.94-8G>T rs773731630 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.109C>T (p.Gln37Ter)
NM_003863.4(DPM2):c.120C>T (p.Ile40=) rs1588689780
NM_003863.4(DPM2):c.139C>T (p.Arg47Ter) rs549450795
NM_003863.4(DPM2):c.151G>A (p.Val51Ile) rs1831509385
NM_003863.4(DPM2):c.153C>A (p.Val51=)
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.173G>A (p.Gly58Asp) rs1185338798
NM_003863.4(DPM2):c.178C>T (p.Leu60=) rs2131648105
NM_003863.4(DPM2):c.180G>A (p.Leu60=) rs2131648100
NM_003863.4(DPM2):c.196+12C>T
NM_003863.4(DPM2):c.196+13C>T
NM_003863.4(DPM2):c.196+18C>G
NM_003863.4(DPM2):c.196+19C>T rs769003503
NM_003863.4(DPM2):c.196+20C>T
NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)
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.237G>A (p.Val79=)
NM_003863.4(DPM2):c.27G>C (p.Val9=)
NM_003863.4(DPM2):c.29del (p.Gly10fs)
NM_003863.4(DPM2):c.3+12A>T
NM_003863.4(DPM2):c.3+14C>T
NM_003863.4(DPM2):c.3+15G>T
NM_003863.4(DPM2):c.3+16T>C
NM_003863.4(DPM2):c.35G>A (p.Gly12Asp) rs1224529806
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003863.4(DPM2):c.39C>T (p.Leu13=) rs757467123
NM_003863.4(DPM2):c.4-18G>C
NM_003863.4(DPM2):c.4-1G>C rs797044467
NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)
NM_003863.4(DPM2):c.66C>A (p.Thr22=) rs532790675
NM_003863.4(DPM2):c.66C>G (p.Thr22=) rs532790675
NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys) rs397514503
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+14C>T rs1831525625
NM_003863.4(DPM2):c.93+17G>A
NM_003863.4(DPM2):c.93+17G>C
NM_003863.4(DPM2):c.93+5G>A
NM_003863.4(DPM2):c.94-11C>T
NM_003863.4(DPM2):c.94-14del rs760202275
NM_003863.4(DPM2):c.94-18C>G rs577196007
NM_003863.4(DPM2):c.94-19G>C
NM_003863.4(DPM2):c.94-19G>T
NM_003863.4(DPM2):c.94-4C>T rs1588689814

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