ClinVar Miner

List of variants in gene MYPN reported as benign for nemaline myopathy

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_032578.4(MYPN):c.2886T>C (p.Val962=) rs10733838 0.98443
NM_032578.4(MYPN):c.2703+17T>C rs6480306 0.98057
NM_032578.4(MYPN):c.3286-28G>T rs7079549 0.64847
NM_032578.4(MYPN):c.2565-21A>G rs7097776 0.64504
NM_032578.4(MYPN):c.1647T>C (p.Ser549=) rs2673794 0.57770
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40601
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39498
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_032578.4(MYPN):c.843A>G (p.Pro281=) rs74143022 0.03534
NM_032578.4(MYPN):c.-2+9C>T rs75716608 0.00900

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