ClinVar Miner

List of variants in gene POC1A studied for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_015426.5(POC1A):c.586C>T (p.His196Tyr) rs144052887 0.00093
NM_015426.5(POC1A):c.1085C>T (p.Thr362Met) rs186299883 0.00045
NM_015426.5(POC1A):c.253G>C (p.Val85Leu) rs112213336 0.00024
NM_015426.5(POC1A):c.82A>G (p.Ser28Gly) rs141061033 0.00021
NM_015426.5(POC1A):c.784C>T (p.Arg262Trp) rs146976547 0.00019
NM_015426.5(POC1A):c.649C>T (p.Arg217Trp) rs372247136 0.00004
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) rs397514487 0.00001
NM_015426.5(POC1A):c.545C>T (p.Ser182Leu) rs1698387096 0.00001
NM_015426.5(POC1A):c.176G>A (p.Gly59Asp)
NM_015426.5(POC1A):c.431A>G (p.His144Arg)
NM_015426.5(POC1A):c.512T>C (p.Leu171Pro) rs397514488
NM_015426.5(POC1A):c.593_605del (p.Ser198fs) rs1698348226
NM_015426.5(POC1A):c.64G>T (p.Val22Phe) rs918352190
NM_015426.5(POC1A):c.667_668dup (p.Gln223fs) rs2107189610
NM_015426.5(POC1A):c.79_87del (p.Phe27_Ile29del) rs2107211932
NM_015426.5(POC1A):c.80_81insA (p.Phe27fs)
NM_015426.5(POC1A):c.836T>G (p.Phe279Cys) rs1559836324
NM_015426.5(POC1A):c.850dup (p.Glu284fs) rs770990008
NM_015426.5(POC1A):c.972G>A (p.Met324Ile) rs1289690139
NM_015426.5(POC1A):c.981+1G>A rs780164701

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