ClinVar Miner

List of variants reported as likely benign for autism spectrum disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_012309.5(SHANK2):c.*4377A>T rs513996 0.96749
NM_012309.5(SHANK2):c.-36A>G rs3020047 0.60032
NM_003097.6(SNRPN):c.-89T>C rs705 0.53733
NM_012309.5(SHANK2):c.*2583T>C rs55678639 0.27352
NM_022807.5(SNRPN):c.-672T>C rs7170796 0.14308
NM_022807.5(SNRPN):c.-579+5G>A rs56684653 0.13434
NM_012309.5(SHANK2):c.385G>A (p.Val129Met) rs73521173 0.05277
NM_012309.5(SHANK2):c.*4102C>G rs61885874 0.03443
NM_012309.5(SHANK2):c.336C>T (p.Asp112=) rs76014490 0.03111
NM_012309.5(SHANK2):c.520C>T (p.Arg174Cys) rs7926203 0.02486
NM_012309.5(SHANK2):c.483+14G>A rs75938961 0.02166
NM_003097.6(SNRPN):c.-39G>A rs75184959 0.01903
NM_022807.5(SNRPN):c.-569C>T rs80135925 0.01706
NM_012309.5(SHANK2):c.483+13C>T rs117706585 0.00882
NM_012309.5(SHANK2):c.*1597T>G rs2154625 0.00746

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