ClinVar Miner

List of variants studied for peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001145809.2(MYH14):c.2347C>T (p.Arg783Trp) rs747057989 0.00001
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys) rs753356694
NM_001145809.2(MYH14):c.4582G>A (p.Glu1528Lys) rs944541812
NM_001145809.2(MYH14):c.5281C>T (p.Arg1761Trp) rs116035034
NM_001145809.2(MYH14):c.6097G>C (p.Ala2033Pro) rs2036794429
NM_001145809.2(MYH14):c.6101A>C (p.His2034Pro) rs1215273187
NM_001145809.2(MYH14):c.6108_6111del (p.Gln2036fs) rs2036795216
NM_001145809.2(MYH14):c.91C>T (p.Pro31Ser) rs590722

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