ClinVar Miner

List of variants reported as likely pathogenic for congenital muscular dystrophy by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_017739.4(POMGNT1):c.1895+1G>T rs386834024 0.00009
NM_001849.4(COL6A2):c.1970-9G>A rs747900252 0.00008
NM_017739.4(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869 0.00004
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960 0.00004
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln) rs193919336 0.00004
NM_020451.3(SELENON):c.1010+1G>A rs908682527 0.00003
NM_020451.3(SELENON):c.802C>T (p.Arg268Cys) rs368074297 0.00003
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp) rs727502855 0.00002
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter) rs771941724 0.00001
NM_017739.4(POMGNT1):c.1325G>A (p.Arg442His) rs150877512 0.00001
NM_017739.4(POMGNT1):c.1489C>T (p.Arg497Ter) rs745343484 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_020451.3(SELENON):c.1096G>T (p.Glu366Ter) rs794727976 0.00001
NM_020451.3(SELENON):c.1209dup (p.Lys404fs) rs745715484 0.00001
NM_020451.3(SELENON):c.1358G>C (p.Trp453Ser) rs121908186 0.00001
NM_020451.3(SELENON):c.1375C>T (p.Gln459Ter) rs760063405 0.00001
NM_020451.3(SELENON):c.1396C>T (p.Arg466Trp) rs752156505 0.00001
NM_020451.3(SELENON):c.1405C>T (p.Arg469Trp) rs756927098 0.00001
NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter) rs960468382 0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter) rs775713184 0.00001
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_000426.4(LAMA2):c.3412-2A>C rs1562449164
NM_001848.3(COL6A1):c.904-39A>G rs1569518138
NM_001849.4(COL6A2):c.855+1G>T rs1057517988
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs) rs2106319784
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu) rs1766404539
NM_013382.7(POMT2):c.1726-1dup rs1229291913
NM_013382.7(POMT2):c.333+1G>T
NM_017739.4(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.4(POMGNT1):c.1285-2A>G rs386834012
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter) rs727504103
NM_017739.4(POMGNT1):c.1556del (p.Lys519fs) rs1176001640
NM_017739.4(POMGNT1):c.1741_1745del (p.Met581fs) rs749332339
NM_017739.4(POMGNT1):c.1814G>A (p.Arg605His) rs267606962
NM_017739.4(POMGNT1):c.1814G>C (p.Arg605Pro) rs267606962
NM_017739.4(POMGNT1):c.1895+1G>A rs386834024
NM_017739.4(POMGNT1):c.263del (p.Pro88fs) rs1557677980
NM_017739.4(POMGNT1):c.478del (p.Met160fs) rs1057517355
NM_017739.4(POMGNT1):c.511C>T (p.Arg171Ter) rs1424631447
NM_017739.4(POMGNT1):c.617G>A (p.Trp206Ter) rs1156647434
NM_017739.4(POMGNT1):c.652+1G>A rs386834035
NM_017739.4(POMGNT1):c.878del (p.Pro293fs) rs752389406
NM_017739.4(POMGNT1):c.879+5G>T rs386834038
NM_017739.4(POMGNT1):c.880-1G>C rs1317832573
NM_017739.4(POMGNT1):c.982dup (p.Val328fs) rs386834040
NM_020451.3(SELENON):c.1011-1G>C rs1333001112
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln) rs779162837
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950
NM_020451.3(SELENON):c.863_864del (p.Val288fs) rs1184282261
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891

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