ClinVar Miner

List of variants reported as uncertain significance for bone disorder by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

Included ClinVar conditions (1436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001361.5(DHODH):c.616G>A (p.Asp206Asn) rs780785810 0.00003
NM_002381.5(MATN3):c.284G>A (p.Arg95Gln) rs755692495 0.00003
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn) rs1571966221 0.00001
NM_000183.3(HADHB):c.110-2324G>C rs764471823 0.00001
NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys) rs776043627 0.00001
NM_003722.5(TP63):c.1460G>A (p.Arg487His) rs781366519 0.00001
NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser) rs149233119 0.00001
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe) rs775940899 0.00001
NM_000142.5(FGFR3):c.445+2_445+5del rs756854039
NM_000396.4(CTSK):c.637_639del (p.Asn213del) rs2525166958
NM_000651.6(CR1):c.6283C>A (p.His2095Asn) rs1571590802
NM_000785.4(CYP27B1):c.781T>G (p.Phe261Val) rs2540916830
NM_001024630.4(RUNX2):c.622C>T (p.Pro208Ser)
NM_001110556.2(FLNA):c.289C>T (p.Pro97Ser)
NM_001128831.4(CA1):c.368_369del (p.His123fs) rs768769200
NM_002181.4(IHH):c.217C>T (p.Arg73Cys) rs2106310521
NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe) rs1591284438
NM_003036.4(SKI):c.121C>T (p.Arg41Cys)
NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg) rs1448187215
NM_005560.6(LAMA5):c.10703C>A (p.Pro3568His) rs1019745323
NM_005996.4(TBX3):c.1534T>A (p.Ser512Thr) rs2499786674
NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val) rs2100994545
NR_003051.4(RMRP):n.223G>T rs924622406

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