ClinVar Miner

List of variants reported as likely benign for Shprintzen-Goldberg syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_003036.4(SKI):c.105G>A (p.Pro35=) rs778180778
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.4(SKI):c.129G>A (p.Ala43=) rs1313492083
NM_003036.4(SKI):c.1317C>T (p.Val439=)
NM_003036.4(SKI):c.183G>C (p.Pro61=) rs774187595
NM_003036.4(SKI):c.1848C>A (p.Ile616=) rs1044806468
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.1935G>T (p.Arg645=) rs751933078
NM_003036.4(SKI):c.1999-9C>G rs369496789
NM_003036.4(SKI):c.225C>T (p.His75=) rs1553189880
NM_003036.4(SKI):c.399C>T (p.Asp133=) rs937379586
NM_003036.4(SKI):c.726C>T (p.Ala242=) rs139227600
NM_003036.4(SKI):c.799C>T (p.Leu267=) rs140178396
NM_003036.4(SKI):c.906C>T (p.Arg302=) rs772758586
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003036.4(SKI):c.970-5C>T

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