ClinVar Miner

List of variants studied for childhood-onset nemaline myopathy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.3255+1G>A rs375628303 0.00006
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.9535C>A (p.Pro3179Thr) rs754263826 0.00001
NM_001100.4(ACTA1):c.299C>A (p.Pro100His)
NM_001101362.3(KBTBD13):c.212C>A (p.Ala71Glu)
NM_001101362.3(KBTBD13):c.477del (p.Ala159_Val160insTer) rs1555407608
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro) rs777916743
NM_001164508.2(NEB):c.11077-1G>A rs1458096844
NM_001164508.2(NEB):c.1675-1G>C
NM_001164508.2(NEB):c.17777del (p.Gly5926fs)
NM_001164508.2(NEB):c.24389G>C (p.Ser8130Thr) rs2152954710
NM_001164508.2(NEB):c.24873+2T>C
NM_001164508.2(NEB):c.24989G>A (p.Arg8330Gln)
NM_001164508.2(NEB):c.4100A>T (p.Asp1367Val)
NM_001164508.2(NEB):c.4412A>C (p.Lys1471Thr)
NM_001164508.2(NEB):c.6562G>T (p.Glu2188Ter)
NM_001164508.2(NEB):c.7345C>T (p.Gln2449Ter) rs2154134234
NM_001164508.2(NEB):c.8161C>T (p.Arg2721Cys) rs570763682
NM_003289.4(TPM2):c.144G>T (p.Lys48Asn)
NM_003289.4(TPM2):c.784G>T (p.Ala262Ser)
NM_152263.4(TPM3):c.175G>A (p.Asp59Asn)

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