ClinVar Miner

List of variants studied for autosomal recessive disease by Belal Azab Laboratory, The University of Jordan

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) rs148920986 0.00010
NM_021971.4(GMPPB):c.458C>T (p.Thr153Ile) rs202013297 0.00003
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro) rs757917335 0.00002
NM_001130987.2(DYSF):c.1149+3G>C rs1573704236
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs) rs1574340607

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