ClinVar Miner

List of variants reported as benign for Noonan syndrome-like disorder with loose anagen hair 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_007373.4(SHOC2):c.*1503A>G rs1327552 0.06997
NM_007373.4(SHOC2):c.*1487del rs143768227 0.06116
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_007373.4(SHOC2):c.*773G>A rs114628508 0.00719
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_007373.4(SHOC2):c.*697C>T rs189140753 0.00453
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_007373.4(SHOC2):c.-159T>C rs72819758 0.00305
NM_007373.4(SHOC2):c.*164T>A rs191293913 0.00283
NM_007373.4(SHOC2):c.*1775T>C rs535776105 0.00157
NM_007373.4(SHOC2):c.*1483G>A rs180979375 0.00128
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_007373.4(SHOC2):c.-179T>A rs143180451 0.00080
NM_007373.4(SHOC2):c.*1323C>T rs371721188 0.00021
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_007373.4(SHOC2):c.*16C>A rs753327392 0.00013
NM_007373.4(SHOC2):c.*1106A>C rs118172559 0.00010
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_007373.4(SHOC2):c.*20C>T rs371005619 0.00005
NM_007373.4(SHOC2):c.*914G>A rs189223963 0.00002
NM_007373.4(SHOC2):c.973-5del rs730881016

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