ClinVar Miner

List of variants reported as pathogenic for bone disorder by Rare Disease Group, Clinical Genetics, Karolinska Institutet

Included ClinVar conditions (1416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_001377.3(DYNC2H1):c.1540C>T (p.Arg514Ter) rs1565317399 0.00001
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) rs762771340 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NC_000005.10:g.55247753A>G rs1579734448
NM_000089.4(COL1A2):c.487-183_594+240del
NM_000977.4(RPL13):c.477+1G>A rs1597675888
NM_001144061.2(COPB1):c.2102A>G (p.Gln701Arg) rs2493876974
NM_001377.3(DYNC2H1):c.1855C>T (p.Gln619Ter) rs1260978141
NM_001377.3(DYNC2H1):c.2386del (p.Arg796fs) rs765454943
NM_001377.3(DYNC2H1):c.2574+1G>A rs1565329461
NM_001377.3(DYNC2H1):c.5682_5683del (p.His1896fs) rs767846762
NM_001377.3(DYNC2H1):c.729T>A (p.Tyr243Ter) rs1565311145
NM_002184.4(IL6ST):c.841C>T (p.Arg281Ter) rs1580817729
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) rs1555531363
NM_015681.6(B9D1):c.285_341+154del rs1598057395
NM_025132.4(WDR19):c.3868_3871del (p.Thr1290fs) rs747165335
NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter) rs778139192
Single allele

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