ClinVar Miner

List of variants reported as benign for congenital deformities of limbs by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002148.4(HOXD10):c.*495A>T rs13403839 0.30776
NM_002148.4(HOXD10):c.*55G>T rs61070787 0.03367
NM_002148.4(HOXD10):c.*585C>T rs72923454 0.01649
NM_002148.4(HOXD10):c.*47G>T rs114746583 0.01364
NM_002148.4(HOXD10):c.987G>C (p.Arg329=) rs33913965 0.01352
NM_002148.4(HOXD10):c.*2T>C rs116807022 0.00985
NM_002148.4(HOXD10):c.*279G>A rs150556295 0.00437
NM_002148.4(HOXD10):c.998T>C (p.Leu333Pro) rs144160937 0.00188
NM_002148.4(HOXD10):c.465T>C (p.Ser155=) rs141770128 0.00048
NM_002148.4(HOXD10):c.372T>G (p.Ile124Met) rs149038150 0.00024
NM_002148.4(HOXD10):c.*643C>T rs552102680

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