ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_012309.4(SHANK2):c.*1597T>G rs2154625
NM_012309.4(SHANK2):c.*2583T>C rs55678639
NM_012309.4(SHANK2):c.*4102C>G rs61885874
NM_012309.4(SHANK2):c.*4377A>T rs513996
NM_012309.4(SHANK2):c.-36A>G rs3020047
NM_012309.4(SHANK2):c.336C>T (p.Asp112=) rs76014490
NM_012309.4(SHANK2):c.385G>A (p.Val129Met) rs73521173
NM_012309.4(SHANK2):c.483+13C>T rs117706585
NM_012309.4(SHANK2):c.483+14G>A rs75938961
NM_012309.4(SHANK2):c.520C>T (p.Arg174Cys) rs7926203
NM_022807.4(SNRPN):c.-39G>A rs75184959
NM_022807.4(SNRPN):c.-569C>T rs80135925
NM_022807.4(SNRPN):c.-579+5G>A rs56684653
NM_022807.4(SNRPN):c.-672T>C rs7170796
NM_022807.4(SNRPN):c.-89T>C rs705

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