ClinVar Miner

List of variants in gene PAFAH1B1 reported as likely benign for Lissencephaly/Subcortical Band Heterotopia

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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_000430.4(PAFAH1B1):c.*1121A>G rs148413152
NM_000430.4(PAFAH1B1):c.*1356C>T rs528384739
NM_000430.4(PAFAH1B1):c.*1378G>A rs1803914
NM_000430.4(PAFAH1B1):c.*1663G>A rs188851173
NM_000430.4(PAFAH1B1):c.*1713A>G rs538507903
NM_000430.4(PAFAH1B1):c.*1934_*1935del rs149797541
NM_000430.4(PAFAH1B1):c.*2230G>A rs117435480
NM_000430.4(PAFAH1B1):c.*2387C>G rs142534933
NM_000430.4(PAFAH1B1):c.*2584C>T rs150281693
NM_000430.4(PAFAH1B1):c.*2600G>A rs182473004
NM_000430.4(PAFAH1B1):c.*2603G>C rs570116568
NM_000430.4(PAFAH1B1):c.*2833C>T rs555460880
NM_000430.4(PAFAH1B1):c.*2835G>A rs186069162
NM_000430.4(PAFAH1B1):c.*2862G>A rs145845266
NM_000430.4(PAFAH1B1):c.*2891G>A rs182338521
NM_000430.4(PAFAH1B1):c.*2922T>C rs578108539
NM_000430.4(PAFAH1B1):c.*2945C>G rs186646353
NM_000430.4(PAFAH1B1):c.*3072T>C rs545489859
NM_000430.4(PAFAH1B1):c.*3180G>A rs370805314
NM_000430.4(PAFAH1B1):c.*3319G>C rs527521914
NM_000430.4(PAFAH1B1):c.*3371G>T rs148118466
NM_000430.4(PAFAH1B1):c.*3442T>G rs191536229
NM_000430.4(PAFAH1B1):c.*3694C>T rs570821627
NM_000430.4(PAFAH1B1):c.*468C>A rs141878652
NM_000430.4(PAFAH1B1):c.*686T>A rs4790090
NM_000430.4(PAFAH1B1):c.*701C>T rs112662089
NM_000430.4(PAFAH1B1):c.*793A>G rs59721618
NM_000430.4(PAFAH1B1):c.*852A>G rs144602512
NM_000430.4(PAFAH1B1):c.-133A>T rs184770358
NM_000430.4(PAFAH1B1):c.-294C>T rs575665906
NM_000430.4(PAFAH1B1):c.-306C>A rs187878265
NM_000430.4(PAFAH1B1):c.-525G>C rs536150262
NM_000430.4(PAFAH1B1):c.-62T>G rs563543268
NM_000430.4(PAFAH1B1):c.-84A>T rs371416321
NM_000430.4(PAFAH1B1):c.118-14T>C rs147692085
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904
NM_000430.4(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011
NM_000430.4(PAFAH1B1):c.672-10A>C rs77153143
NM_000430.4(PAFAH1B1):c.693A>T (p.Thr231=) rs2228614
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620

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