ClinVar Miner

List of variants in gene combination LARP7, MIR302CHG reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
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_016648.3(LARP7):c.651_655del
NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs) rs1057519017
NM_016648.4(LARP7):c.1045_1051dup (p.Ser351Ter) rs2149267795
NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs) rs775657157
NM_016648.4(LARP7):c.503_504dup (p.Ala169fs) rs1554011296
NM_016648.4(LARP7):c.679C>T (p.Arg227Ter) rs775430086
NM_016648.4(LARP7):c.690_699delinsTCCAAGCCAATAGACAATATCCAAGCC (p.Lys230_Asn233delinsAsnProSerGlnTer) rs2149265753
NM_016648.4(LARP7):c.789dup (p.Glu264Ter) rs2149266119
NM_016648.4(LARP7):c.828_829insN (p.Lys277fs)
NM_016648.4(LARP7):c.834dup (p.Arg279fs) rs763929099
NM_016648.4(LARP7):c.931_950del (p.Lys311fs)

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