ClinVar Miner

List of variants in gene POMGNT1 reported as likely pathogenic for hereditary skeletal muscle disorder

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.236-1G>T rs1057516477 0.00001
NC_000001.10:g.(?_46662492)_(46662823_?)del
NM_017739.4(POMGNT1):c.106_107del (p.Arg36fs)
NM_017739.4(POMGNT1):c.120+1G>A
NM_017739.4(POMGNT1):c.120+2T>A rs1658353874
NM_017739.4(POMGNT1):c.121-2A>G rs1057516871
NM_017739.4(POMGNT1):c.121-67_265del rs1658278935
NM_017739.4(POMGNT1):c.121-67_265delinsTAG
NM_017739.4(POMGNT1):c.12del (p.Asp3_Trp4insTer)
NM_017739.4(POMGNT1):c.137del (p.Phe46fs)
NM_017739.4(POMGNT1):c.185_186insA (p.Arg63fs) rs1057517153
NM_017739.4(POMGNT1):c.208_209del (p.Glu70fs)
NM_017739.4(POMGNT1):c.215dup (p.Glu73fs)
NM_017739.4(POMGNT1):c.226C>T (p.Gln76Ter)
NM_017739.4(POMGNT1):c.233_234del (p.Asp77_Tyr78insTer) rs1553164129
NM_017739.4(POMGNT1):c.235+2T>C rs2148218654
NM_017739.4(POMGNT1):c.235+2T>G rs2148218654
NM_017739.4(POMGNT1):c.236-1G>C
NM_017739.4(POMGNT1):c.236-1_236del
NM_017739.4(POMGNT1):c.246_262dup (p.Pro88fs) rs2148217590
NM_017739.4(POMGNT1):c.25dup (p.Leu9fs) rs386834027
NM_017739.4(POMGNT1):c.263del (p.Pro88fs) rs1557677980
NM_017739.4(POMGNT1):c.296T>C (p.Leu99Pro)
NM_017739.4(POMGNT1):c.307del (p.Val103fs)
NM_017739.4(POMGNT1):c.316A>C (p.Ser106Arg)
NM_017739.4(POMGNT1):c.333T>A (p.Tyr111Ter)
NM_017739.4(POMGNT1):c.351del (p.Thr118fs) rs386834028
NM_017739.4(POMGNT1):c.354+1G>A rs1057517449
NM_017739.4(POMGNT1):c.49A>T (p.Lys17Ter)
NM_017739.4(POMGNT1):c.60_63delinsGTGA (p.Ser20_Trp21delinsArgTer) rs1057516478
NM_017739.4(POMGNT1):c.94del (p.Gln32fs)

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