ClinVar Miner

List of variants reported as benign for muscular dystrophy-dystroglycanopathy, type A by Athena Diagnostics

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
NM_001077365.2(POMT1):c.699+53= rs2296949 0.11752
NM_001077365.2(POMT1):c.1047= (p.Asp349=) rs3739494 0.11727
NM_001077365.2(POMT1):c.876= (p.Thr292=) rs10901065 0.11723
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=) rs62620174 0.02004
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 0.01080

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