ClinVar Miner

List of variants reported as likely pathogenic for bone development disease by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_018946.4(NANS):c.1A>G (p.Met1Val) rs369033671 0.00001
NM_000088.4(COL1A1):c.2045del (p.Pro682fs) rs2144560659
NM_000088.4(COL1A1):c.2056G>A (p.Gly686Ser) rs1404470949
NM_000088.4(COL1A1):c.2579G>A (p.Gly860Glu) rs72653142
NM_000088.4(COL1A1):c.3281G>C (p.Gly1094Ala) rs2144542715
NM_000088.4(COL1A1):c.3871T>G (p.Cys1291Gly) rs2144534929
NM_000089.4(COL1A2):c.1630G>T (p.Gly544Cys) rs72658134
NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu) rs775246283
NM_000089.4(COL1A2):c.279+3A>C rs762201938
NM_000112.4(SLC26A2):c.1375_1377dup (p.Val459dup) rs2113698643
NM_000112.4(SLC26A2):c.1382C>T (p.Ala461Val) rs2113698650
NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu) rs2136577158
NM_001844.5(COL2A1):c.1952G>T (p.Gly651Val) rs1447463543
NM_001844.5(COL2A1):c.2114G>A (p.Gly705Asp) rs2136551606
NM_001844.5(COL2A1):c.3149G>A (p.Gly1050Asp) rs1555165242
NM_004239.4(TRIP11):c.1107_1108dup (p.Thr370fs) rs2140129581
NM_014140.4(SMARCAL1):c.2427+1G>A rs1559138455
NM_025132.4(WDR19):c.2887C>T (p.Gln963Ter)

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