ClinVar Miner

List of variants reported as likely benign for muscular dystrophy-dystroglycanopathy, type A by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) rs35207939 0.01004
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys) rs114363936 0.00703
NM_014254.3(RXYLT1):c.1226A>G (p.Glu409Gly) rs141536395 0.00659
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) rs200990647 0.00109
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_024301.5(FKRP):c.828A>G (p.Leu276=) rs745994685 0.00013
NM_001077365.2(POMT1):c.1699-19A>G rs761855332 0.00002
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 0.00001
NM_017739.4(POMGNT1):c.1365G>A (p.Arg455=) rs774554415 0.00001
NM_001079802.2(FKTN):c.1044+17G>C rs200801909
NM_024301.5(FKRP):c.168C>T (p.Phe56=) rs1443120812
NM_024301.5(FKRP):c.558C>A (p.Pro186=) rs1266858563
NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) rs34083889

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