ClinVar Miner

List of variants studied for muscular dystrophy-dystroglycanopathy, type B by Genome-Nilou Lab

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_021971.4(GMPPB):c.551A>G (p.Gln184Arg) rs1466685 0.98834
NM_001077365.2(POMT1):c.856-49T>G rs4740163 0.97653
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_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_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_024301.5(FKRP):c.-34C>T rs3201779 0.17414
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_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973 0.00994
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) rs143793528 0.00910
NM_017739.4(POMGNT1):c.1927T>G (p.Phe643Val) rs199534074 0.00004
NM_017739.4(POMGNT1):c.440G>A (p.Arg147His) rs776165339 0.00003
NM_001079802.2(FKTN):c.366T>G (p.Asn122Lys) rs150591365 0.00001
NM_017739.4(POMGNT1):c.1721C>T (p.Thr574Ile) rs556069604 0.00001
NM_017739.4(POMGNT1):c.793C>T (p.Arg265Cys) rs774752168 0.00001
NM_017739.4(POMGNT1):c.799C>T (p.Arg267Cys) rs148131756 0.00001
NM_017739.4(POMGNT1):c.902A>G (p.Asn301Ser) rs754653320 0.00001
NM_024301.5(FKRP):c.119G>A (p.Arg40His) rs2054891509 0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala) rs963039919 0.00001
NM_024301.5(FKRP):c.9C>T (p.Leu3=) rs756295058 0.00001
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001079802.2(FKTN):c.*42del rs749100291
NM_001079802.2(FKTN):c.-45G>T rs77013649
NM_001079802.2(FKTN):c.1150G>T (p.Ala384Ser) rs1343750016
NM_001079802.2(FKTN):c.18G>C (p.Lys6Asn) rs2132016533
NM_001079802.2(FKTN):c.824A>G (p.Lys275Arg) rs2133099564
NM_001079802.2(FKTN):c.934A>G (p.Ile312Val) rs2133161218
NM_001079802.2(FKTN):c.977A>G (p.Asp326Gly) rs759791267
NM_017739.4(POMGNT1):c.*457C>T rs1657513729
NM_017739.4(POMGNT1):c.1117A>C (p.Lys373Gln) rs752591703
NM_017739.4(POMGNT1):c.1681C>T (p.Pro561Ser) rs2148167563
NM_017739.4(POMGNT1):c.226C>A (p.Gln76Lys) rs972657462
NM_017739.4(POMGNT1):c.722A>G (p.Lys241Arg) rs2148202208
NM_024301.5(FKRP):c.282C>T (p.Pro94=) rs1267805674

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