ClinVar Miner

List of variants reported as likely benign for Noonan syndrome-like disorder with loose anagen hair 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_007373.4(SHOC2):c.*1062dup rs530047047 0.00045
NM_007373.4(SHOC2):c.*506_*509del rs371679867 0.00037
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_007373.4(SHOC2):c.1215A>G (p.Val405=) rs749123957 0.00001
NM_007373.4(SHOC2):c.*1775del rs527775221
NM_007373.4(SHOC2):c.703+15ATT[3] rs370351651

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