ClinVar Miner

List of variants studied for Noonan syndrome-like disorder with loose anagen hair by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_007373.3(SHOC2):c.*1062dup rs530047047
NM_007373.3(SHOC2):c.*1106A>C rs118172559
NM_007373.3(SHOC2):c.*1218C>T rs886046735
NM_007373.3(SHOC2):c.*1245T>C rs754913685
NM_007373.3(SHOC2):c.*1323C>T rs371721188
NM_007373.3(SHOC2):c.*1324G>A rs559572636
NM_007373.3(SHOC2):c.*1483G>A rs180979375
NM_007373.3(SHOC2):c.*1486dup rs549502834
NM_007373.3(SHOC2):c.*1487G>T rs7074770
NM_007373.3(SHOC2):c.*1487del rs143768227
NM_007373.3(SHOC2):c.*1503A>G rs1327552
NM_007373.3(SHOC2):c.*1575A>G rs886046736
NM_007373.3(SHOC2):c.*164T>A rs191293913
NM_007373.3(SHOC2):c.*1775T>C rs535776105
NM_007373.3(SHOC2):c.*1775del rs527775221
NM_007373.3(SHOC2):c.*3T>C rs143187497
NM_007373.3(SHOC2):c.*404A>G rs539394184
NM_007373.3(SHOC2):c.*506_*509del rs371679867
NM_007373.3(SHOC2):c.*518T>C rs886046731
NM_007373.3(SHOC2):c.*614T>G rs886046732
NM_007373.3(SHOC2):c.*625del rs886046733
NM_007373.3(SHOC2):c.*656C>G rs557334390
NM_007373.3(SHOC2):c.*697C>T rs189140753
NM_007373.3(SHOC2):c.*773G>A rs114628508
NM_007373.3(SHOC2):c.*914G>A rs189223963
NM_007373.3(SHOC2):c.*958C>A rs372493479
NM_007373.3(SHOC2):c.-159T>C rs72819758
NM_007373.3(SHOC2):c.-179T>A rs143180451
NM_007373.3(SHOC2):c.-254C>T rs886046728
NM_007373.3(SHOC2):c.1161+9A>G rs201795589
NM_007373.3(SHOC2):c.1239G>T (p.Gln413His) rs200215822
NM_007373.3(SHOC2):c.1284+15G>A rs770745229
NM_007373.3(SHOC2):c.1422+9_1422+11del rs750754038
NM_007373.3(SHOC2):c.1423-7C>T rs180671383
NM_007373.3(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534
NM_007373.3(SHOC2):c.457C>T (p.Leu153=) rs34081996
NM_007373.3(SHOC2):c.610A>G (p.Ile204Val) rs200015085
NM_007373.3(SHOC2):c.701T>C (p.Ile234Thr) rs751292868
NM_007373.3(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.3(SHOC2):c.774A>G (p.Gly258=) rs753237615
NM_007373.3(SHOC2):c.841+12G>A rs201258692
NM_007373.3(SHOC2):c.973-5del rs730881016

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