ClinVar Miner

List of variants reported as benign for muscular dystrophy-dystroglycanopathy, type A by Genome-Nilou Lab

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_032237.5(POMK):c.282+34C>A rs5024011 0.99646
NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg) rs1466685 0.98834
NM_001077365.2(POMT1):c.856-49T>G rs4740163 0.97653
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) rs2131107 0.97526
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val) rs6659553 0.94881
NM_001077365.2(POMT1):c.986+49G>A rs10901066 0.88278
NM_001077365.2(POMT1):c.876T>C (p.Thr292=) rs10901065 0.88277
NM_001077365.2(POMT1):c.1047T>C (p.Asp349=) rs3739494 0.88273
NM_001077365.2(POMT1):c.428-21T>C rs11243404 0.88267
NM_001077365.2(POMT1):c.700-48A>G rs2018621 0.88264
NM_001077365.2(POMT1):c.699+53A>G rs2296949 0.88248
NM_001077365.2(POMT1):c.*41T>C rs3739495 0.88174
NM_001077365.2(POMT1):c.1698+48C>G rs2277152 0.84050
NM_001077365.2(POMT1):c.2003+13C>T rs4740165 0.84044
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) rs2270419 0.82874
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) rs3209079 0.82113
NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=) rs604033 0.80050
NM_152490.5(B3GALNT2):c.321= (p.Glu107=) rs291396 0.53906
NM_013382.7(POMT2):c.1184-47A>C rs2287387 0.51704
NM_017739.4(POMGNT1):c.1027-44A>G rs7527668 0.37971
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_017739.4(POMGNT1):c.951-52A>G rs7527935 0.34868
NM_017739.4(POMGNT1):c.1212-66T>C rs2292484 0.34786
NM_017739.4(POMGNT1):c.1212-81C>T rs2292485 0.34766
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
NM_014254.3(RXYLT1):c.*18C>G rs1876465 0.14533
NM_001077365.2(POMT1):c.1082+16G>A rs59515295 0.14451
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_017739.4(POMGNT1):c.1895+30A>G rs113174528 0.05532
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_017739.4(POMGNT1):c.235+33T>G rs41309197 0.04222
NM_017739.4(POMGNT1):c.1111-23C>T rs2292486 0.02728
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_032806.6(POMGNT2):c.-43C>T rs2936818
NM_152490.5(B3GALNT2):c.-138=

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