ClinVar Miner

List of variants reported as not provided for Autism spectrum disorder

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000548.5(TSC2):c.454C>G (p.His152Asp) rs397515285 0.00003
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209 0.00002
NM_000548.5(TSC2):c.2861A>G (p.Lys954Arg) rs397515191 0.00001
NM_000548.5(TSC2):c.5155G>A (p.Ala1719Thr) rs201206500 0.00001
NM_000548.5(TSC2):c.1597A>C (p.Lys533Gln) rs397515038
NM_000548.5(TSC2):c.190A>G (p.Ile64Val) rs397515081
NM_000548.5(TSC2):c.2183G>T (p.Cys728Phe) rs397514908
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.2879C>T (p.Ser960Phe) rs397514898
NM_000548.5(TSC2):c.2950G>C (p.Glu984Gln) rs397515156
NM_000548.5(TSC2):c.5072T>C (p.Met1691Thr) rs397515110
NM_001100399.2(PDS5A):c.663_666del (p.Lys222fs)
NM_012309.5(SHANK2):c.1924C>T (p.Arg642Ter) rs2134275196
NM_030966.2(KRTAP1-3):c.121C>G (p.Gln41Glu) rs78298475
NM_181303.2(NLGN3):c.814A>T (p.Ile272Phe) rs2147900298

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