ClinVar Miner

List of variants reported as likely pathogenic for bone disorder by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004608.4(TBX6):c.356G>A (p.Arg119His) rs200175825 0.00007
NM_000451.4(SHOX):c.479G>A (p.Arg160His) rs1159449478 0.00001
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) rs780873164 0.00001
NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter) rs763991433 0.00001
NM_014140.4(SMARCAL1):c.1384_1389dup (p.Leu462_Gly463dup) rs1553526162 0.00001
NM_000088.4(COL1A1):c.2074G>A (p.Gly692Ser) rs1907108266
NM_000088.4(COL1A1):c.2586del (p.Gly863fs) rs1598289920
NM_000088.4(COL1A1):c.3935G>A (p.Trp1312Ter) rs886039880
NM_000388.4(CASR):c.2293T>C (p.Cys765Arg) rs1363412937
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro) rs915608304
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser) rs1602244810
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001174147.2(LMX1B):c.192dup (p.Asp65fs) rs1057516196
NM_001177316.2(SLC34A3):c.1274C>T (p.Thr425Ile) rs1060499697
NM_001177316.2(SLC34A3):c.1386C>G (p.Tyr462Ter) rs777986863
NM_001177316.2(SLC34A3):c.560+27_561-38del rs746082077
NM_001369268.1(ACAN):c.-7-2A>T rs1596128699
NM_001844.5(COL2A1):c.3062_3079del (p.Pro1021_Gly1026del) rs1555165335
NM_001844.5(COL2A1):c.3436-2A>G rs1592198803
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_002968.3(SALL1):c.2287dup (p.Arg763fs) rs1597229151
NM_002968.3(SALL1):c.2801del (p.Ser934fs) rs1597228490
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa) rs1555470631
NM_006494.4(ERF):c.286A>T (p.Lys96Ter) rs1599823350
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp) rs1313658611
NM_022455.5(NSD1):c.6013C>G (p.Arg2005Gly) rs587784173
NM_022455.5(NSD1):c.6647G>A (p.Gly2216Glu) rs1760068807
NM_024312.5(GNPTAB):c.1664_1667delinsTA (p.Tyr555fs) rs1953072149
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346

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